A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537084



Internal ID15163220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50498842..50578618hg38UCSC Ensembl
Innerchr3:50536273..50616049hg19UCSC Ensembl
Innerchr3:50511277..50591053hg18UCSC Ensembl
Innerchr3:50511277..50591053hg17UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3879777
hg1979777
hg1879777
hg1779777
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460532
Supporting Variants
SamplesHGDP01147
Known GenesC3orf18, CACNA2D2, HEMK1
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)nssv537084
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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