Variant Details

Variant: nssv544325

Internal ID

15512935

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:70463310..70508832	hg38	UCSC Ensembl
Inner	chr12:70857090..70902612	hg19	UCSC Ensembl
Inner	chr12:69143357..69188879	hg18	UCSC Ensembl
Inner	chr12:69143357..69188879	hg17	UCSC Ensembl

Cytoband

12q15

Allele length

Assembly	Allele length
hg38	45523
hg19	45523
hg18	45523
hg17	45523

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv469464

Supporting Variants

Samples

NINDS_83

Known Genes

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)

nssv544325

Frequency

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