A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2764363



Internal ID17828762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:31912206..31915235hg38UCSC Ensembl
Innerchr1:32377807..32380836hg19UCSC Ensembl
Innerchr1:32150394..32153423hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg383030
hg193030
hg183030
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947424
Supporting Variants
SamplesHGDP00998
Known GenesPTP4A2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2764363
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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