Variant Details

Variant: nsv438305

Internal ID

15388115

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr20:705670..709681	hg38	UCSC Ensembl
Inner	chr20:686314..690325	hg19	UCSC Ensembl
Inner	chr20:634314..638325	hg18	UCSC Ensembl
Inner	chr20:681314..685325	hg16	UCSC Ensembl

Cytoband

20p13

Allele length

Assembly	Allele length
hg38	4012
hg19	4012
hg18	4012
hg16	4012

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv470749, nssv470748

Samples

NA19154, NA19153

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)

nsv438305

Frequency

Sample Size	269
Observed Gain	0
Observed Loss	2
Observed Complex	0
Frequency	n/a