Variant Details

Variant: nssv542995

Internal ID

15512007

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr11:38243164..38363288	hg38	UCSC Ensembl
Inner	chr11:38264714..38384838	hg19	UCSC Ensembl
Inner	chr11:38221290..38341414	hg18	UCSC Ensembl
Inner	chr11:38221290..38341414	hg17	UCSC Ensembl

Cytoband

11p12

Allele length

Assembly	Allele length
hg38	120125
hg19	120125
hg18	120125
hg17	120125

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv467847

Supporting Variants

Samples

NINDS_183

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)

nssv542995

Frequency

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