A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219502



Internal ID22364508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:48992365..49032991hg38UCSC Ensembl
Outerchr14:49461568..49499709hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3840627
hg1938142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257276, nssv14258308, nssv14258307, nssv14258306
SamplesNA19239, HG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219502
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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