A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203117



Internal ID22352182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102890740..102892062hg38UCSC Ensembl
chr2:103507199..103508521hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg381323
hg191323
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14294130, nssv14294134, nssv14294127, nssv14294129, nssv14294131, nssv14294132, nssv14294128, nssv14294135, nssv14294133
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)nsv3203117
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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