Variant Details

Variant: nssv541031

Internal ID

15160402

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:143070653..143184447	hg38	UCSC Ensembl
Inner	chr7:142767750..142881540	hg19	UCSC Ensembl
Inner	chr7:142477872..142591662	hg18	UCSC Ensembl
Inner	chr7:142284587..142398377	hg17	UCSC Ensembl

Cytoband

7q34

Allele length

Assembly	Allele length
hg38	113795
hg19	113791
hg18	113791
hg17	113791

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv465175

Supporting Variants

Samples

HGDP00606

Known Genes

PIP, TAS2R39

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)

nssv541031

Frequency

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