A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206670



Internal ID22355180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122074957..122077889hg38UCSC Ensembl
chr3:121793804..121796736hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg382933
hg192933
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14309336, nssv14309331, nssv14309329, nssv14309328, nssv14309335, nssv14309334, nssv14309330, nssv14309332, nssv14309333
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCD86
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206670
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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