A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223383



Internal ID22367171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1239410..1277783hg38UCSC Ensembl
Outerchr7:1279046..1317419hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg383649
hg193649
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8348n152
Supporting Variantsnssv14277870, nssv14277875, nssv14277872, nssv14277873, nssv14277874, nssv14277871
SamplesNA19238, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223383
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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