A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560739



Internal ID16001462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130229408..130829669hg38UCSC Ensembl
Innerchr12:130713953..131314214hg19UCSC Ensembl
Innerchr12:129279906..129880167hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38600262
hg19600262
hg18600262
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2977n54
Supporting Variantsnssv804410
Samples
Known GenesPIWIL1, RIMBP2, STX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560739
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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