A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216916



Internal ID22362755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:44641875..44722268hg38UCSC Ensembl
Outerchr20:43270516..43350909hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3880394
hg1980394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5281n152
Supporting Variantsnssv14266282, nssv14266283
SamplesNA19239, NA19240
Known GenesADA, LOC79015, WISP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216916
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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