Variant Details

Variant: nsv460058

Internal ID

15520123

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:208890335..209001671	hg38	UCSC Ensembl
Inner	chr2:209755059..209866395	hg19	UCSC Ensembl
Inner	chr2:209463304..209574640	hg18	UCSC Ensembl
Inner	chr2:209580565..209691901	hg17	UCSC Ensembl

Cytoband

2q34

Allele length

Assembly	Allele length
hg38	111337
hg19	111337
hg18	111337
hg17	111337

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv536684

Samples

NINDS_103

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)

nsv460058

Frequency

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