A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973989



Internal ID18262516
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2756828
SamplesHGDP00998
Known GenesRNF41, SMARCC2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973989
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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