A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273955



Internal ID22319847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8604179..8636998hg38UCSC Ensembl
Outerchr4:8605906..8638724hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg385535
hg195535
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215290
Supporting Variants
SamplesNA19240
Known GenesCPZ
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273955
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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