A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273970



Internal ID22330294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:131702109..131762951hg38UCSC Ensembl
Outerchr4:132623264..132684106hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3888310
hg1988310
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212532
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273970
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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