A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198841



Internal ID22348514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:133925022..133925114hg38UCSC Ensembl
chr2:134682593..134682685hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14293515, nssv14293516, nssv14293517, nssv14293514
SamplesNA19239, HG00732, NA19240, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198841
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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