A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210433



Internal ID22358336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100706805..100706886hg38UCSC Ensembl
chr8:101719033..101719114hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14342149, nssv14342147, nssv14342145, nssv14342143, nssv14342148, nssv14342144, nssv14342146, nssv14342142
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPABPC1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210433
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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