A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2756828



Internal ID17480824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56188459..56209212hg38UCSC Ensembl
Innerchr12:56582243..56602996hg19UCSC Ensembl
Innerchr12:54868510..54889263hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3820754
hg1920754
hg1820754
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973989
Supporting Variants
SamplesHGDP00998
Known GenesRNF41, SMARCC2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2756828
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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