A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267175



Internal ID22267545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:43390409..43423418hg38UCSC Ensembl
Outerchr20:42019049..42052058hg19UCSC Ensembl
Cytoband20q13.11
Allele length
AssemblyAllele length
hg3833010
hg1933010
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224590
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267175
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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