A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266475



Internal ID22274870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:41039688..41055437hg38UCSC Ensembl
Outerchr20:39668328..39684077hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg3830016
hg1930016
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3243551
Supporting Variants
SamplesNA19239
Known GenesTOP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266475
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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