A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267530



Internal ID22303531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:64084092..64140934hg38UCSC Ensembl
Outerchr20:62715445..62772287hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg383018
hg193018
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241634
Supporting Variants
SamplesNA19240
Known GenesC20orf201, NPBWR2, OPRL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267530
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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