A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274538



Internal ID22278146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:131702109..131789438hg38UCSC Ensembl
Outerchr4:132623264..132710593hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3844031
hg1944031
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213292
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274538
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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