A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240324



Internal ID22374669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:640851..654085hg38UCSC Ensembl
Outerchr20:621495..634729hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38583
hg19583
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268053
SamplesHG00513
Known GenesSRXN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240324
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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