Variant Details

Variant: nssv536713

Internal ID

15513046

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:212698348..212745635	hg38	UCSC Ensembl
Inner	chr2:213563072..213610359	hg19	UCSC Ensembl
Inner	chr2:213271317..213318604	hg18	UCSC Ensembl
Inner	chr2:213388578..213435865	hg17	UCSC Ensembl

Cytoband

2q34

Allele length

Assembly	Allele length
hg38	47288
hg19	47288
hg18	47288
hg17	47288

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv460093

Supporting Variants

Samples

NINDS_98

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)

nssv536713

Frequency

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