A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194779



Internal ID22345049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:28994409..29001288hg38UCSC Ensembl
chr3:29035900..29042779hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg386880
hg196880
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14307225, nssv14307226, nssv14307221, nssv14307220, nssv14307227, nssv14307228, nssv14307223, nssv14307222, nssv14307224
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)nsv3194779
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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