A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234740



Internal ID22373111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:34667538..34706849hg38UCSC Ensembl
Outerchr14:35136744..35176055hg19UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg383065
hg193065
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258118, nssv14258115, nssv14258119, nssv14258120, nssv14258116, nssv14258117
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234740
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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