A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223579



Internal ID22367302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238765446..238785761hg38UCSC Ensembl
Outerchr2:239674087..239694402hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38536
hg19536
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5080n152
Supporting Variantsnssv14266230, nssv14266229
SamplesHG00512, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223579
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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