A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266358



Internal ID22146240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:64018827..64042348hg38UCSC Ensembl
Outerchr20:62650180..62673701hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3823522
hg1923522
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219034
Supporting Variants
SamplesHG00514
Known GenesLINC00176, PRPF6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266358
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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