A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534421



Internal ID15161068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:61886496..62227459hg38UCSC Ensembl
Innerchr15:62178695..62519658hg19UCSC Ensembl
Innerchr15:59965987..60306950hg18UCSC Ensembl
Innerchr15:59965987..60306950hg17UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38340964
hg19340964
hg18340964
hg17340964
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457176
Supporting Variants
SamplesHGDP00708
Known GenesC2CD4A, C2CD4B, VPS13C
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)nssv534421
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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