Variant Details

Variant: nssv544324

Internal ID

15166051

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:70405024..70440088	hg38	UCSC Ensembl
Inner	chr12:70798804..70833868	hg19	UCSC Ensembl
Inner	chr12:69085071..69120135	hg18	UCSC Ensembl
Inner	chr12:69085071..69120135	hg17	UCSC Ensembl

Cytoband

12q15

Allele length

Assembly	Allele length
hg38	35065
hg19	35065
hg18	35065
hg17	35065

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv469463

Supporting Variants

Samples

NINDS_58

Known Genes

KCNMB4

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)

nssv544324

Frequency

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