Variant Details

Variant: nsv441869

Internal ID

15153902

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:39584941..39587542	hg38	UCSC Ensembl
Inner	chr4:39586561..39589162	hg19	UCSC Ensembl
Inner	chr4:39262956..39265557	hg18	UCSC Ensembl
Inner	chr4:39409127..39411728	hg17	UCSC Ensembl

Cytoband

4p14

Allele length

Assembly	Allele length
hg38	2602
hg19	2602
hg18	2602
hg17	2602

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1657488, nssv1657487, nssv1657491, nssv1657490, nssv1657489

Samples

NA18862, NA19142, NA19140, NA18521, NA18522

Known Genes

SMIM14, UGDH-AS1

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)

nsv441869

Frequency

Sample Size	270
Observed Gain	0
Observed Loss	5
Observed Complex	0
Frequency	n/a