A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268004



Internal ID22274064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:38112230..38128978hg38UCSC Ensembl
Outerchr20:36740632..36757380hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg381018
hg191018
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245722
Supporting Variants
SamplesNA19239
Known GenesTGM2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268004
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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