A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244501



Internal ID22375877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104211914..104260505hg38UCSC Ensembl
Outerchr14:104678251..104726842hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg381288
hg191288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257977, nssv14257976, nssv14257978
SamplesNA19238, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244501
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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