A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240323



Internal ID22374668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:52186061..52203119hg38UCSC Ensembl
Outerchr14:52652779..52669837hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg387006
hg197006
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258165, nssv14258163, nssv14258161, nssv14258162, nssv14258160, nssv14258164
SamplesHG00512, NA19238, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240323
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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