A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234241



Internal ID22372973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:81278035..81327063hg38UCSC Ensembl
Outerchr14:81744379..81793407hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg382642
hg192642
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257822, nssv14257821, nssv14257823, nssv14257817, nssv14257820, nssv14257816, nssv14257824, nssv14257819, nssv14257818
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSTON2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234241
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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