A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266366



Internal ID22258159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:20813541..20830358hg38UCSC Ensembl
Outerchr20:20794184..20811001hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg38778
hg19778
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245601
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266366
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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