A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210100



Internal ID22358070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:231818307..231874626hg38UCSC Ensembl
Outerchr2:232683017..232739336hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3856320
hg1956320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5036n152
Supporting Variantsnssv14263895, nssv14263894
SamplesNA19238, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210100
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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