Variant Details

Variant: nsv442746

Internal ID

15154779

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:45508390..45571138	hg38	UCSC Ensembl
Inner	chr17:43585756..43648504	hg19	UCSC Ensembl
Inner	chr17:40941539..41004287	hg18	UCSC Ensembl
Inner	chr17:40941539..41004287	hg17	UCSC Ensembl

Cytoband

17q21.31

Allele length

Assembly	Allele length
hg38	62749
hg19	62749
hg18	62749
hg17	62749

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1651039, nssv1651054, nssv1651043, nssv1651032, nssv1651040, nssv1651028, nssv1651038, nssv1651037, nssv1651055, nssv1651029, nssv1651046, nssv1651052, nssv1651048, nssv1651044, nssv1651030, nssv1651056, nssv1651035, nssv1651047, nssv1651034, nssv1651027, nssv1651042, nssv1651041, nssv1651033, nssv1651050, nssv1651053, nssv1651049, nssv1651036, nssv1651031, nssv1651045, nssv1651051

Samples

NA11995, NA12146, NA12155, NA12813, NA10846, NA11992, NA06993, NA12761, NA12005, NA12156, NA12815, NA10847, NA12752, NA07022, NA12753, NA10831, NA12872, NA11839, NA12234, NA10830, NA12144, NA06985, NA11882, NA11881, NA12864, NA10859, NA12874, NA12763, NA06994, NA12006

Known Genes

LRRC37A4P

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)

nsv442746

Frequency

Sample Size	270
Observed Gain	0
Observed Loss	30
Observed Complex	0
Frequency	n/a