Variant Details

Variant: nssv540592

Internal ID

15156428

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:140495663..140533785	hg38	UCSC Ensembl
Inner	chr7:140195463..140233585	hg19	UCSC Ensembl
Inner	chr7:139841932..139880054	hg18	UCSC Ensembl
Inner	chr7:139648647..139686769	hg17	UCSC Ensembl

Cytoband

7q34

Allele length

Assembly	Allele length
hg38	38123
hg19	38123
hg18	38123
hg17	38123

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv464735

Supporting Variants

Samples

1780862084_A

Known Genes

DENND2A

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)

nssv540592

Frequency

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