A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273076



Internal ID22269787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:165112190..165121321hg38UCSC Ensembl
Outerchr4:166033342..166042473hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38951
hg19951
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218658
Supporting Variants
SamplesNA19239
Known GenesTMEM192
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273076
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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