---
title: "CNV Calling from ADSP Whole-Exome Sequencing (WES) Data"
id: "8737"
type: "sample_set"
slug: "snd10139"
published_at: "2026-02-20T20:29:49+00:00"
modified_at: "2026-02-20T20:29:50+00:00"
url: "https://dss.niagads.org/sample-sets/snd10139/"
markdown_url: "https://dss.niagads.org/sample-sets/snd10139.md"
excerpt: "This dataset comprises CNV calls from Whole Exome Sequencing (WES) across multiple distinct Alzheimer’s Disease (AD) sequencing projects, including the discovery and replication ADSP family datasets, the ADSP case-control dataset, and the ADNI dataset. A total of 16,201 samples were..."
---

## Description

This dataset comprises CNV calls from Whole Exome Sequencing (WES) across multiple distinct Alzheimer’s Disease (AD) sequencing projects, including the discovery and replication ADSP family datasets, the ADSP case-control dataset, and the ADNI dataset. A total of 16,201 samples were processed for CNV detection using CANOES software, and the resulting files are formatted as BED files. Additionally, the dataset includes target definition files specifying the chromosomal positions used, as well as batch files defining the reference genome, the target file applied, and subject mappings.

## Cohorts

- [Adult Changes in Thought (ACT)](https://dss.niagads.org/cohorts/adult-changes-in-thought-act/)
- [Atherosclerosis Risk in Communities (ARIC)](https://dss.niagads.org/cohorts/atherosclerosis-risk-in-communities-aric/)
- [Cardiovascular Health Study (CHS)](https://dss.niagads.org/cohorts/cardiovascular-health-study-chs/)
- [Chicago Health and Aging Project (CHAP)](https://dss.niagads.org/cohorts/chicago-health-and-aging-project-chap/)
- [Corticobasal Degeneration (CBD)](https://dss.niagads.org/cohorts/corticobasal-degeneration-cbd/)
- [Erasmus Rucphen Family (ERF)](https://dss.niagads.org/cohorts/erasmus-rucphen-family-erf/)
- [Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA)](https://dss.niagads.org/cohorts/estudio-familiar-de-influencia-genetica-en-alzheimer-efiga/)
- [Framingham Heart Study (FHS)](https://dss.niagads.org/cohorts/framingham-heart-study-fhs/)
- [Genetic Differences (GenDiff)](https://dss.niagads.org/cohorts/genetic-differences-gendiff/)
- [Knight Alzheimer’s Disease Research Center (KGAD)](https://dss.niagads.org/cohorts/knight-alzheimers-disease-research-center-kgad/)
- [Mayo Clinic (MAYO)](https://dss.niagads.org/cohorts/mayo/)
- [Multi-Institutional Research in Alzheimer's Genetic Epidemiology (MIRAGE)](https://dss.niagads.org/cohorts/multi-institutional-research-in-alzheimers-genetic-epidemiology-mirage/)
- [National Centralized Repository for Alzheimer’s Disease and Related Dementias Family (NCRAD Family)](https://dss.niagads.org/cohorts/national-centralized-repository-for-alzheimers-disease-and-related-dementias-family-ncrad-family/)
- [National Institute of Aging Alzheimer’s Disease Family Based Study (NIA AD-FBS)](https://dss.niagads.org/cohorts/national-institute-on-aging-late-onset-of-alzheimers-disease-family-nia-load/)
- [NIA Alzheimer's Disease Research Centers (ADRC)](https://dss.niagads.org/cohorts/nia-alzheimers-disease-research-centers-adrc/)
- [Religious Orders Study/Memory and Aging Project (ROSMAP)](https://dss.niagads.org/cohorts/religious-orders-study-memory-and-aging-project-rosmap/)
- [Rotterdam Study (RS)](https://dss.niagads.org/cohorts/rotterdam-study-rs/)
- [Texas Alzheimer’s Research and Care Consortium (TARCC)](https://dss.niagads.org/cohorts/texas-alzheimers-research-and-care-consortium-tarcc/)
- [University of Miami (MIA)](https://dss.niagads.org/cohorts/university-of-miami-mia/)
- [University of Toronto (TOR)](https://dss.niagads.org/cohorts/university-of-toronto/)
- [University of Washington Families (RAS)](https://dss.niagads.org/cohorts/university-of-washington-families-ras/)
- [Vanderbilt University (VAN)](https://dss.niagads.org/cohorts/vanderbilt-university-van/)
- [Washington Heights and Inwood Community Aging project (WHICAP)](https://dss.niagads.org/cohorts/washington-heights-and-inwood-community-aging-project-whicap/)

## Sex

### Total number of samples: 16,201

Female9,77760.3 %

Male6,42439.7 %

## Race

### Total number of samples: 16,201

| American Indian/Alaska Native | 4 |
| --- | --- |
| Asian | 1 |
| Black or African American | 1,150 |
| White | 12,941 |
| Other | 2,105 |

## Ethnicity

### Total number of samples: 16,201

Not Hispanic or Latino

13,378

82.6%

Hispanic or Latino

2,200

13.6%

Not Applicable/Not Available

623

3.8%

## Diagnosis

### Total number of samples: 16,201

| AD |  |  |
| --- | --- | --- |
| Control | 7,666 | 47.3% |
| Case | 6,366 | 39.3% |
| Other | 56 | 0.3% |
| Unknown | 2,113 | 13.0% |

## APOE

### Total number of samples: 16,201

- 2299 (0.6%)
- 231,816 (11.2%)
- 24333 (2.1%)
- 338,903 (55.0%)
- 344,287 (26.5%)
- 44396 (2.4%)
- NA367 (2.3%)