A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219562



Internal ID22364551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:56661871..56680822hg38UCSC Ensembl
Outerchr20:55236927..55255878hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg3818952
hg1918952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266864, nssv14266865
SamplesHG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219562
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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