A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238782



Internal ID22374252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:100679594..100711670hg38UCSC Ensembl
Outerchr14:101145931..101178007hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381260
hg191260
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2749n152
Supporting Variantsnssv14259025, nssv14259027, nssv14259026
SamplesHG00512, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238782
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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