A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266987



Internal ID22121386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63350676..63362913hg38UCSC Ensembl
Outerchr20:61982028..61994265hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381587
hg191587
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234717
Supporting Variants
SamplesHG00512
Known GenesCHRNA4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266987
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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