A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274032



Internal ID22132837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1371025..1379995hg38UCSC Ensembl
Outerchr4:1364813..1373783hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38690
hg19690
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214361
Supporting Variants
SamplesHG00513
Known GenesUVSSA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274032
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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