A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248221



Internal ID22376919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104211914..104304131hg38UCSC Ensembl
Outerchr14:104678251..104770468hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg386287
hg196287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259034, nssv14259035, nssv14259031, nssv14259032, nssv14259033
SamplesHG00512, HG00731, HG00732, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248221
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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