Variant Details

Variant: nssv534439

Internal ID

15512266

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr15:71969044..72010326	hg38	UCSC Ensembl
Inner	chr15:72261385..72302667	hg19	UCSC Ensembl
Inner	chr15:70048439..70089721	hg18	UCSC Ensembl
Inner	chr15:70048439..70089721	hg17	UCSC Ensembl

Cytoband

15q23

Allele length

Assembly	Allele length
hg38	41283
hg19	41283
hg18	41283
hg17	41283

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv457199

Supporting Variants

Samples

NINDS_222

Known Genes

MYO9A

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)

nssv534439

Frequency

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