A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267019



Internal ID22224474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63066380..63070392hg38UCSC Ensembl
Outerchr20:61697732..61701744hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381030
hg191030
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238453
Supporting Variants
SamplesHG00733
Known GenesLOC63930
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267019
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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