Variant Details

Variant: nssv540590

Internal ID

15155716

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:139724223..139954457	hg38	UCSC Ensembl
Inner	chr7:139424022..139654256	hg19	UCSC Ensembl
Inner	chr7:139070502..139300725	hg18	UCSC Ensembl
Inner	chr7:138877217..139107440	hg17	UCSC Ensembl

Cytoband

7q34

Allele length

Assembly	Allele length
hg38	230235
hg19	230235
hg18	230224
hg17	230224

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv464732

Supporting Variants

Samples

1780854338_A

Known Genes

HIPK2, TBXAS1

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)

nssv540590

Frequency

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