A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233129



Internal ID22372675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:67340668..67405879hg38UCSC Ensembl
Outerchr14:67807385..67872596hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg381802
hg191802
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258203, nssv14258204
SamplesHG00512, NA19238
Known GenesATP6V1D, EIF2S1, PLEK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233129
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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