A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266515



Internal ID22274853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63941824..63968652hg38UCSC Ensembl
Outerchr20:62573177..62600005hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382365
hg192365
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238396
Supporting Variants
SamplesNA19239
Known GenesMIR647, UCKL1, UCKL1-AS1, ZNF512B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266515
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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