A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217817



Internal ID22363358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:33308975..33309046hg38UCSC Ensembl
chr8:33166493..33166564hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9130n152
Supporting Variantsnssv14340503, nssv14340501, nssv14340502
SamplesHG00512, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217817
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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