Variant Details

Variant: nsv442874

Internal ID

15501593

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:128676647..128693488	hg38	UCSC Ensembl
Inner	chr3:128395490..128412331	hg19	UCSC Ensembl
Inner	chr3:129878180..129895021	hg18	UCSC Ensembl
Inner	chr3:129878188..129895029	hg17	UCSC Ensembl

Cytoband

3q21.3

Allele length

Assembly	Allele length
hg38	16842
hg19	16842
hg18	16842
hg17	16842

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1623922, nssv1623909, nssv1623908, nssv1623925, nssv1623923, nssv1623910, nssv1623907, nssv1623920, nssv1623917, nssv1623924, nssv1623915, nssv1623913, nssv1623914, nssv1623911, nssv1623921, nssv1623912, nssv1623916, nssv1623919, nssv1623906, nssv1623918

Samples

NA11830, NA11995, NA12814, NA10851, NA12004, NA12801, NA10857, NA12813, NA12156, NA11994, NA12003, NA12056, NA12144, NA06985, NA10856, NA12043, NA12716, NA12057, NA10861, NA12006

Known Genes

Method

SNP array

Analysis

We used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.

Platform

[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array

Comments

Reference

McCarroll_et_al_2008

Pubmed ID

18776908

Accession Number(s)

nsv442874

Frequency

Sample Size	270
Observed Gain	20
Observed Loss	0
Observed Complex	0
Frequency	n/a