A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266282



Internal ID22278498
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216916
Supporting Variants
SamplesNA19239
Known GenesADA, LOC79015, WISP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266282
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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