A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267189



Internal ID22308493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:50750044..50775347hg38UCSC Ensembl
Outerchr20:49366581..49391884hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3825304
hg1925304
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225415
Supporting Variants
SamplesNA19240
Known GenesPARD6B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267189
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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