Variant Details

Variant: nsv442633

Internal ID

15154666

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:10430768..10443520	hg38	UCSC Ensembl
Inner	chr12:10583367..10596119	hg19	UCSC Ensembl
Inner	chr12:10474634..10487386	hg18	UCSC Ensembl
Inner	chr12:10474634..10487386	hg17	UCSC Ensembl

Cytoband

12p13.2

Allele length

Assembly	Allele length
hg38	12753
hg19	12753
hg18	12753
hg17	12753

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1644273, nssv1644298, nssv1644232, nssv1644251, nssv1644240, nssv1644259, nssv1644245, nssv1644254, nssv1644233, nssv1644276, nssv1644244, nssv1644236, nssv1644295, nssv1644249, nssv1644257, nssv1644302, nssv1644228, nssv1644246, nssv1644235, nssv1644294, nssv1644289, nssv1644239, nssv1644262, nssv1644258, nssv1644292, nssv1644287, nssv1644291, nssv1644303, nssv1644285, nssv1644277, nssv1644278, nssv1644266, nssv1644284, nssv1644253, nssv1644270, nssv1644241, nssv1644238, nssv1644297, nssv1644252, nssv1644243, nssv1644261, nssv1644293, nssv1644271, nssv1644283, nssv1644229, nssv1644260, nssv1644263, nssv1644264, nssv1644286, nssv1644231, nssv1644265, nssv1644255, nssv1644275, nssv1644282, nssv1644237, nssv1644281, nssv1644250, nssv1644279, nssv1644268, nssv1644288, nssv1644280, nssv1644230, nssv1644247, nssv1644272, nssv1644301, nssv1644267, nssv1644300, nssv1644234, nssv1644299, nssv1644274, nssv1644248, nssv1644269, nssv1644242, nssv1644256, nssv1644296, nssv1644290

Samples

NA19142, NA19137, NA12154, NA18863, NA19127, NA19152, NA19194, NA12249, NA12801, NA18966, NA12752, NA12875, NA18612, NA18501, NA19003, NA19223, NA10847, NA18603, NA18972, NA18517, NA18542, NA18524, NA12044, NA18862, NA18943, NA12865, NA12763, NA18912, NA18992, NA11839, NA12753, NA18854, NA10846, NA12762, NA18990, NA12761, NA18593, NA19100, NA18970, NA12751, NA12239, NA12145, NA19129, NA12892, NA19102, NA19098, NA19139, NA18564, NA18942, NA18540, NA18997, NA19221, NA18974, NA19141, NA18940, NA12891, NA10857, NA19138, NA19201, NA19128, NA12812, NA10830, NA18577, NA19099, NA12003, NA10838, NA18852, NA19160, NA12248, NA19171, NA12717, NA18555, NA19200, NA19007, NA19202, NA10854

Known Genes

KLRC2

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)

nsv442633

Frequency

Sample Size	270
Observed Gain	0
Observed Loss	76
Observed Complex	0
Frequency	n/a