Variant Details

Variant: nssv543923

Internal ID

15155321

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:248098027..248252360	hg38	UCSC Ensembl
Inner	chr1:248261329..248415662	hg19	UCSC Ensembl
Inner	chr1:246327952..246482285	hg18	UCSC Ensembl
Inner	chr1:244587370..244741703	hg17	UCSC Ensembl

Cytoband

1q44

Allele length

Assembly	Allele length
hg38	154334
hg19	154334
hg18	154334
hg17	154334

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv468861

Supporting Variants

Samples

1780854079_A

Known Genes

OR2L13, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5

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)

nssv543923

Frequency

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