A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv791696



Internal ID15738966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31713899..32032990hg38UCSC Ensembl
Innerchr12:31866833..32185924hg19UCSC Ensembl
Innerchr12:31758100..32077191hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38319092
hg19319092
hg18319092
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558100
Supporting Variants
Samples
Known GenesAMN1, H3F3C, KIAA1551, RNU6-78P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv791696
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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