Variant Details

Variant: nssv1658928

Internal ID

15132999

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:113092071..113121473	hg38	UCSC Ensembl
Inner	chr9:115854351..115883753	hg19	UCSC Ensembl
Inner	chr9:114894172..114923574	hg18	UCSC Ensembl
Inner	chr9:112933905..112963307	hg17	UCSC Ensembl

Cytoband

9q32

Allele length

Assembly	Allele length
hg38	29403
hg19	29403
hg18	29403
hg17	29403

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv442164

Supporting Variants

Samples

NA18635

Known Genes

FAM225A, FAM225B

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)

nssv1658928

Frequency

Sample Size	270
Observed Gain	1
Observed Loss	0
Observed Complex	0
Frequency	n/a