A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241673



Internal ID22375033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:17868215..17899505hg38UCSC Ensembl
Outerchr20:17848859..17880149hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg386058
hg196058
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265856, nssv14265857, nssv14265858
SamplesNA19238, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241673
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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