Variant Details

Variant: nsv442570

Internal ID

15154603

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr10:13014550..13016840	hg38	UCSC Ensembl
Inner	chr10:13056550..13058840	hg19	UCSC Ensembl
Inner	chr10:13096556..13098846	hg18	UCSC Ensembl
Inner	chr10:13096556..13098846	hg17	UCSC Ensembl

Cytoband

10p13

Allele length

Assembly	Allele length
hg38	2291
hg19	2291
hg18	2291
hg17	2291

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1640618, nssv1640617, nssv1640623, nssv1640624, nssv1640619, nssv1640621, nssv1640620, nssv1640625, nssv1640622

Samples

NA12813, NA12891, NA12005, NA07019, NA10839, NA06985, NA06991, NA12875, NA07056

Known Genes

CCDC3

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)

nsv442570

Frequency

Sample Size	270
Observed Gain	0
Observed Loss	9
Observed Complex	0
Frequency	n/a