Variant Details

Variant: nssv537506

Internal ID

15512679

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:191343425..191355439	hg38	UCSC Ensembl
Inner	chr3:191061214..191073228	hg19	UCSC Ensembl
Inner	chr3:192543908..192555922	hg18	UCSC Ensembl
Inner	chr3:192543916..192555930	hg17	UCSC Ensembl

Cytoband

3q28

Allele length

Assembly	Allele length
hg38	12015
hg19	12015
hg18	12015
hg17	12015

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv461056

Supporting Variants

Samples

NINDS_50

Known Genes

CCDC50

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)

nssv537506

Frequency

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