A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241973



Internal ID22375121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47668371..47672633hg38UCSC Ensembl
Outerchr20:46297115..46301377hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38661
hg19661
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268061
SamplesHG00513
Known GenesSULF2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241973
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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