A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202641



Internal ID22351775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236731869..236733084hg38UCSC Ensembl
chr2:237640512..237641727hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381216
hg191216
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14297261, nssv14297260, nssv14297254, nssv14297256, nssv14297262, nssv14297258, nssv14297259, nssv14297255, nssv14297257
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)nsv3202641
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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