A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197588



Internal ID22347451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119749689..119752406hg38UCSC Ensembl
chr3:119468536..119471253hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg382718
hg192718
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14309268, nssv14309261, nssv14309264, nssv14309262, nssv14309269, nssv14309266, nssv14309265, nssv14309267, nssv14309263
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMAATS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197588
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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