A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14299672



Internal ID22203064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62142376..62145018hg38UCSC Ensembl
chr20:60717432..60720074hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382643
hg192643
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216321
Supporting Variants
SamplesHG00732
Known GenesPSMA7, SS18L1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14299672
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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