A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240094



Internal ID22374601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:100412691..100433070hg38UCSC Ensembl
Outerchr8:101424919..101445298hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg381882
hg191882
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280430, nssv14280429, nssv14280423, nssv14280426, nssv14280428, nssv14280425, nssv14280431, nssv14280427, nssv14280424
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240094
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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