A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241507



Internal ID22336353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:103849406..103900843hg38UCSC Ensembl
Outerchr14:104315743..104367180hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg381477
hg191477
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257971, nssv14257964, nssv14257967, nssv14257963, nssv14257968, nssv14257970, nssv14257965, nssv14257969, nssv14257966
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLINC00637
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241507
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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