Variant Details

Variant: nssv1655495

Internal ID

15125256

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chrX:149802619..149899987	hg38	UCSC Ensembl
Inner	chrX:148884281..149028760	hg19	UCSC Ensembl
Inner	chrX:148692078..148789418	hg18	UCSC Ensembl
Inner	chrX:148589932..148687272	hg17	UCSC Ensembl

Cytoband

Xq28

Allele length

Assembly	Allele length
hg38	97369
hg19	144480
hg18	97341
hg17	97341

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv442819

Supporting Variants

Samples

NA18508

Known Genes

MAGEA8, MAGEA8-AS1

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)

nssv1655495

Frequency

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