Variant Details

Variant: nssv538379

Internal ID

15502775

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:45857027..46287010	hg38	UCSC Ensembl
Inner	chr5:45857129..46287112	hg19	UCSC Ensembl
Inner	chr5:45892886..46322869	hg18	UCSC Ensembl
Inner	chr5:45892886..46322869	hg17	UCSC Ensembl

Cytoband

5p11

Allele length

Assembly	Allele length
hg38	429984
hg19	429984
hg18	429984
hg17	429984

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv462138

Supporting Variants

Samples

1780854532_A

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)

nssv538379

Frequency

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