Variant Details

Variant: nsv458377

Internal ID

15171756

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:20352186..21528400	hg38	UCSC Ensembl
Inner	chr19:20462995..21711202	hg19	UCSC Ensembl
Inner	chr19:20323995..21503042	hg18	UCSC Ensembl
Inner	chr19:20323995..21503042	hg17	UCSC Ensembl

Cytoband

19p12

Allele length

Assembly	Allele length
hg38	1176215
hg19	1248208
hg18	1179048
hg17	1179048

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv535320

Samples

HGDP00598

Known Genes

LINC00664, MIR1270-1, MIR1270-2, ZNF429, ZNF430, ZNF431, ZNF493, ZNF626, ZNF708, ZNF714, ZNF737, ZNF738, ZNF826P, ZNF85

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)

nsv458377

Frequency

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