Variant Details

Variant: nsv438219

Internal ID

15388030

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:70480946..70483236	hg38	UCSC Ensembl
Inner	chr12:70874726..70877016	hg19	UCSC Ensembl
Inner	chr12:69160993..69163283	hg18	UCSC Ensembl
Inner	chr12:69160993..69163283	hg16	UCSC Ensembl

Cytoband

12q15

Allele length

Assembly	Allele length
hg38	2291
hg19	2291
hg18	2291
hg16	2291

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv470487, nssv470484, nssv470481, nssv470488, nssv470486, nssv470489, nssv470483, nssv470482

Samples

NA10851, NA12751, NA12146, NA10846, NA10847, NA12056, NA12145, NA10856

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.
Null genotypes - for each genotype assay and population sample we defined the null genotype pattern of that assay as the binary vector (length 90) of null genotype calls across the 90 individuals.

Platform

Not reported

Comments

Reference

McCarroll_et_al_2006

Pubmed ID

16468122

Accession Number(s)

nsv438219

Frequency

Sample Size	269
Observed Gain	0
Observed Loss	8
Observed Complex	0
Frequency	n/a