A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560636



Internal ID16348045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:127101782..127568091hg38UCSC Ensembl
Innerchr12:127586327..128052636hg19UCSC Ensembl
Innerchr12:126152280..126618589hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38466310
hg19466310
hg18466310
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2954n54
Supporting Variantsnssv804214, nssv804213
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560636
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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