A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268780



Internal ID22269958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45891370..45914793hg38UCSC Ensembl
Outerchr21:47311284..47334707hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381137
hg191137
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247028
Supporting Variants
SamplesNA19239
Known GenesPCBP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268780
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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