A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216598



Internal ID22362543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238765446..238789367hg38UCSC Ensembl
Outerchr2:239674087..239698008hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381744
hg191744
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5080n152
Supporting Variantsnssv14265221, nssv14265222, nssv14265711, nssv14265224, nssv14265223
SamplesNA19238, NA19239, HG00731, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216598
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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