A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268097



Internal ID22187859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:13930209..13936902hg38UCSC Ensembl
Outerchr20:13910855..13917548hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38614
hg19614
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235291
Supporting Variants
SamplesHG00731
Known GenesSEL1L2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268097
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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