A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211773



Internal ID22359223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:44672616..44722268hg38UCSC Ensembl
Outerchr20:43301257..43350909hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3849653
hg1949653
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267182, nssv14267183, nssv14267181
SamplesNA19238, NA19239, NA19240
Known GenesWISP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211773
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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