A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209202



Internal ID22357315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:16842230..16844387hg38UCSC Ensembl
chr2:17023497..17025654hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg382158
hg192158
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14288314, nssv14288315, nssv14288317, nssv14288316, nssv14288311, nssv14288313, nssv14288309, nssv14288310, nssv14288312
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209202
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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