A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267183



Internal ID22289556
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211773
Supporting Variants
SamplesNA19240
Known GenesWISP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267183
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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