A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv797556



Internal ID15744826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:64615463..64802197hg38UCSC Ensembl
Innerchr12:65009243..65195977hg19UCSC Ensembl
Innerchr12:63295510..63482244hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38186735
hg19186735
hg18186735
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559204
Supporting Variants
Samples
Known GenesGNS, MIR548C, MIR548Z, RASSF3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv797556
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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