Variant Details

Variant: nssv535724

Internal ID

15503184

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr20:380145..444790	hg38	UCSC Ensembl
Inner	chr20:360789..425434	hg19	UCSC Ensembl
Inner	chr20:308789..373434	hg18	UCSC Ensembl
Inner	chr20:308789..373434	hg17	UCSC Ensembl

Cytoband

20p13

Allele length

Assembly	Allele length
hg38	64646
hg19	64646
hg18	64646
hg17	64646

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

nsv458842

Supporting Variants

Samples

1780862101_A

Known Genes

RBCK1, TBC1D20, TRIB3

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)

nssv535724

Frequency

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