A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193802



Internal ID22344204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:89327681..91430728hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg382103048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4682n152
Supporting Variantsnssv14264718, nssv14264717
SamplesHG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193802
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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