A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561251



Internal ID16348660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:21153703..21158036hg38UCSC Ensembl
Innerchr13:21727842..21732175hg19UCSC Ensembl
Innerchr13:20625842..20630175hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg384334
hg194334
hg184334
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3078n54
Supporting Variantsnssv806177, nssv806176, nssv806178, nssv806173, nssv806175, nssv806172, nssv806174
Samples
Known GenesSKA3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561251
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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