A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210051



Internal ID22358032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:242152350..242163592hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3811243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5141n152
Supporting Variantsnssv14265460, nssv14265461
SamplesNA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210051
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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