Variant Details

Variant: nsv437853

Internal ID

5952191

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:128430941..128434420	hg19	UCSC Ensembl
Outer	chr3:128427739..128457060	hg19	UCSC Ensembl
Inner	chr3:129913631..129917110	hg18	UCSC Ensembl
Outer	chr3:129910429..129939750	hg18	UCSC Ensembl
Inner	chr3:129913639..129917118	hg17	UCSC Ensembl
Outer	chr3:129910437..129939758	hg17	UCSC Ensembl
Inner	chr3:129751850..129755329	hg16	UCSC Ensembl
Outer	chr3:129748648..129777969	hg16	UCSC Ensembl

Cytoband

3q21.3

Allele length

Assembly	Allele length
hg19	n/a
hg18	n/a
hg17	n/a
hg16	n/a

Variant Type

CNV Loss

Copy Number

Allele State

Heterozygous

Allele Origin

Inherited

Probe Count

Merged Status

Merged Variants

Supporting Variants

nssv467734

Samples

NA10859

Known Genes

RAB7A

Method

SNP_genotyping_analysis

Analysis

Our algorithm aims to detect deletions that are transmitted from a hemizygous parent to a child. For each trio, every SNP was coded into one of seven categories: (A) Type I mendelian incompatibility (that is, consistent with deletion) involving mother

Platform

Not Provided

Comments

Reference

Conrad et al 2006

Pubmed ID

16327808

Accession Number(s)

nsv437853

Frequency

Sample Size	60
Observed Gain	0
Observed Loss	1
Observed Complex	0
Frequency	n/a