Variant Details

Variant: nssv535319

Internal ID

15155249

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:19910237..20040448	hg38	UCSC Ensembl
Inner	chr19:20021046..20151257	hg19	UCSC Ensembl
Inner	chr19:19882046..20012257	hg18	UCSC Ensembl
Inner	chr19:19882046..20012257	hg17	UCSC Ensembl

Cytoband

19p12

Allele length

Assembly	Allele length
hg38	130212
hg19	130212
hg18	130212
hg17	130212

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv458376

Supporting Variants

Samples

1780854017_A

Known Genes

ZNF682, ZNF93

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)

nssv535319

Frequency

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