Variant Details

Variant: nssv543708

Internal ID

15503824

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:238946743..238993070	hg38	UCSC Ensembl
Inner	chr1:239110043..239156370	hg19	UCSC Ensembl
Inner	chr1:237176666..237222993	hg18	UCSC Ensembl
Inner	chr1:235436084..235482411	hg17	UCSC Ensembl

Cytoband

1q43

Allele length

Assembly	Allele length
hg38	46328
hg19	46328
hg18	46328
hg17	46328

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv468605

Supporting Variants

Samples

1780862432_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)

nssv543708

Frequency

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