A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3526134



Internal ID22395514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42796871..42799318hg38UCSC Ensembl
chr3:42838363..42840810hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382448
hg192448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5950n152
Supporting Variantsnssv14306762, nssv14306761, nssv14306760, nssv14306765, nssv14306763, nssv14306758, nssv14306764, nssv14306759, nssv14306766
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesHIGD1A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3526134
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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