A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266433



Internal ID22289305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:2451907..2459592hg38UCSC Ensembl
Outerchr20:2432553..2440238hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg383587
hg193587
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249712
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266433
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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