A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266978



Internal ID22187289
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245321
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266978
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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