Variant Details

Variant: nsv437094

Internal ID

5951943

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr10:6258796..6259657	hg19	UCSC Ensembl
Outer	chr10:6258433..6261704	hg19	UCSC Ensembl
Inner	chr10:6298802..6299663	hg18	UCSC Ensembl
Outer	chr10:6298439..6301710	hg18	UCSC Ensembl
Inner	chr10:6298802..6299663	hg17	UCSC Ensembl
Outer	chr10:6298439..6301710	hg17	UCSC Ensembl
Inner	chr10:6262802..6263663	hg16	UCSC Ensembl
Outer	chr10:6262439..6265710	hg16	UCSC Ensembl

Cytoband

10p15.1

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

nssv466975

Samples

NA10831

Known Genes

PFKFB3

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)

nsv437094

Frequency

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