A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222041



Internal ID22366242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:72872702..72890493hg38UCSC Ensembl
Outerchr8:73784937..73802728hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3817792
hg1917792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280966, nssv14280967, nssv14280965, nssv14280970, nssv14280968, nssv14280969, nssv14280971
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesKCNB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222041
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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