A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234117



Internal ID22372939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:74461383..74487182hg38UCSC Ensembl
Outerchr14:74928086..74953885hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381118
hg191118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257798, nssv14257796, nssv14257800, nssv14257794, nssv14257799, nssv14257801, nssv14257793, nssv14257795, nssv14257797
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMIR4709, NPC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234117
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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