A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537039



Internal ID15510340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:22022010..22102577hg38UCSC Ensembl
Innerchr3:22063502..22144069hg19UCSC Ensembl
Innerchr3:22038506..22119073hg18UCSC Ensembl
Innerchr3:22038506..22119073hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3880568
hg1980568
hg1880568
hg1780568
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460475
Supporting Variants
SamplesHGDP01232
Known Genes
MethodSNP array
AnalysisAn 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.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv537039
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer