Variant Details

Variant: nsv442163

Internal ID

15154196

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:112620975..112828298	hg38	UCSC Ensembl
Inner	chr9:115383255..115590578	hg19	UCSC Ensembl
Inner	chr9:114423076..114630399	hg18	UCSC Ensembl
Inner	chr9:112462810..112670133	hg17	UCSC Ensembl

Cytoband

9q32

Allele length

Assembly	Allele length
hg38	207324
hg19	207324
hg18	207324
hg17	207324

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1658923, nssv1658924, nssv1658926, nssv1658925

Samples

NA19204, NA19209, NA19210, NA19211

Known Genes

INIP, KIAA1958, SNX30

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)

nsv442163

Frequency

Sample Size	270
Observed Gain	4
Observed Loss	0
Observed Complex	0
Frequency	n/a