A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581279



Internal ID16022002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32408622..33107871hg38UCSC Ensembl
Innerchr2:32633690..33332938hg19UCSC Ensembl
Innerchr2:32487194..33186442hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38699250
hg19699249
hg18699249
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6750n54
Supporting Variantsnssv904638
Samples
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, MIR558, TTC27
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581279
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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