A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245321



Internal ID22376117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63137896..63170015hg38UCSC Ensembl
Outerchr20:61769248..61801367hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381221
hg191221
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266978, nssv14266977, nssv14266979
SamplesNA19238, HG00731, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245321
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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