Variant Details

Variant: nsv441910

Internal ID

15500629

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:119683705..119688113	hg38	UCSC Ensembl
Inner	chr4:120604860..120609268	hg19	UCSC Ensembl
Inner	chr4:120824308..120828716	hg18	UCSC Ensembl
Inner	chr4:120962463..120966871	hg17	UCSC Ensembl

Cytoband

4q26

Allele length

Assembly	Allele length
hg38	4409
hg19	4409
hg18	4409
hg17	4409

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1657676, nssv1657677

Samples

NA18564, NA18594

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)

nsv441910

Frequency

Sample Size	270
Observed Gain	0
Observed Loss	2
Observed Complex	0
Frequency	n/a