Variant Details

Variant: nssv533529

Internal ID

15503490

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr13:113452383..113477639	hg38	UCSC Ensembl
Inner	chr13:114106698..114131954	hg19	UCSC Ensembl
Inner	chr13:113154699..113179955	hg18	UCSC Ensembl
Inner	chr13:113154699..113179955	hg17	UCSC Ensembl

Cytoband

13q34

Allele length

Assembly	Allele length
hg38	25257
hg19	25257
hg18	25257
hg17	25257

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv456137

Supporting Variants

Samples

1780862304_A

Known Genes

ADPRHL1, DCUN1D2

Method

SNP array

Analysis

An HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.

Platform

Not reported

Comments

Reference

Itsara_et_al_2009

Pubmed ID

19166990

Accession Number(s)

nssv533529

Frequency

Sample Size	1557
Observed Gain	0
Observed Loss	1
Observed Complex	0
Frequency	n/a