A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202766



Internal ID22351883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240899742..240911405hg38UCSC Ensembl
Outerchr2:241839159..241850822hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3811664
hg1911664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263912
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202766
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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