Variant Details

Variant: nsv442698

Internal ID

15154731

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr15:34408482..34538187	hg38	UCSC Ensembl
Inner	chr15:34700683..34830388	hg19	UCSC Ensembl
Inner	chr15:32487975..32617680	hg18	UCSC Ensembl
Inner	chr15:32487975..32617680	hg17	UCSC Ensembl

Cytoband

15q14

Allele length

Assembly	Allele length
hg38	129706
hg19	129706
hg18	129706
hg17	129706

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1647744, nssv1647759, nssv1647722, nssv1647768, nssv1647727, nssv1647767, nssv1647779, nssv1647756, nssv1647761, nssv1647730, nssv1647772, nssv1647739, nssv1647766, nssv1647725, nssv1647741, nssv1647729, nssv1647764, nssv1647773, nssv1647742, nssv1647752, nssv1647751, nssv1647781, nssv1647776, nssv1647737, nssv1647733, nssv1647769, nssv1647777, nssv1647758, nssv1647754, nssv1647749, nssv1647735, nssv1647734, nssv1647763, nssv1647778, nssv1647755, nssv1647753, nssv1647728, nssv1647770, nssv1647775, nssv1647738, nssv1647723, nssv1647774, nssv1647724, nssv1647747, nssv1647745, nssv1647726, nssv1647765, nssv1647780, nssv1647732, nssv1647731, nssv1647740, nssv1647750, nssv1647746, nssv1647757, nssv1647748, nssv1647762, nssv1647760, nssv1647736, nssv1647743, nssv1647771

Samples

NA18964, NA18863, NA18861, NA18951, NA18914, NA18523, NA18975, NA19173, NA19209, NA18501, NA19093, NA18500, NA18526, NA12815, NA19203, NA18521, NA18953, NA19144, NA10855, NA18860, NA18912, NA19239, NA12056, NA18635, NA18960, NA18991, NA18592, NA18856, NA07048, NA18956, NA18609, NA11831, NA18637, NA12716, NA18620, NA12892, NA19094, NA18968, NA18522, NA19238, NA19005, NA18502, NA18858, NA18945, NA18940, NA19145, NA10851, NA18582, NA07055, NA19201, NA10835, NA07022, NA19205, NA12248, NA11829, NA19171, NA19204, NA18913, NA19007, NA19202

Known Genes

GOLGA8A, GOLGA8B, MIR1233-1, MIR1233-2

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)

nsv442698

Frequency

Sample Size	270
Observed Gain	8
Observed Loss	52
Observed Complex	0
Frequency	n/a