A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2761298



Internal ID17509147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:67988413..67991452hg38UCSC Ensembl
Innerchr12:68382193..68385232hg19UCSC Ensembl
Innerchr12:66668460..66671499hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg383040
hg193040
hg183040
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975510
Supporting Variants
SamplesHGDP01029
Known GenesIFNG-AS1
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2761298
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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