A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220553



Internal ID22365214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:60083368..60097578hg38UCSC Ensembl
Outerchr8:60995927..61010137hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3814211
hg1914211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9193n152
Supporting Variantsnssv14280960, nssv14280961
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220553
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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