Variant Details

Variant: nssv470175

Internal ID

15385516

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chrX:67018503..67444377	hg38	UCSC Ensembl
Inner	chrX:66238345..66664219	hg19	UCSC Ensembl
Inner	chrX:66155070..66580944	hg18	UCSC Ensembl
Inner	chrX:65105136..65531010	hg16	UCSC Ensembl

Cytoband

Xq12

Allele length

Assembly	Allele length
hg38	425875
hg19	425875
hg18	425875
hg16	425875

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv438136

Supporting Variants

Samples

NA18503

Known Genes

Method

SNP array

Analysis

Mendelian inconsistencies - for each genotype assay and population sample we defined the Mendel failure pattern of that assay as the binary vector (length 60) of Mendel consistency status across the 60 parent-offspring pair.

Platform

Not reported

Comments

Reference

McCarroll_et_al_2006

Pubmed ID

16468122

Accession Number(s)

nssv470175

Frequency

Sample Size	269
Observed Gain	0
Observed Loss	1
Observed Complex	0
Frequency	n/a