A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560738



Internal ID16001461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130222462..130721804hg38UCSC Ensembl
Innerchr12:130707007..131206349hg19UCSC Ensembl
Innerchr12:129272960..129772302hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38499343
hg19499343
hg18499343
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2977n54
Supporting Variantsnssv804409
Samples
Known GenesPIWIL1, RIMBP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560738
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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