Variant Details

Variant: nssv536724

Internal ID

15511724

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:220406407..220436051	hg38	UCSC Ensembl
Inner	chr2:221271128..221300772	hg19	UCSC Ensembl
Inner	chr2:220979372..221009016	hg18	UCSC Ensembl
Inner	chr2:221096633..221126277	hg17	UCSC Ensembl

Cytoband

2q35

Allele length

Assembly	Allele length
hg38	29645
hg19	29645
hg18	29645
hg17	29645

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv460107

Supporting Variants

Samples

NINDS_135

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)

nssv536724

Frequency

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