A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218658



Internal ID22363934
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273075, nssv14273073, nssv14273072, nssv14273074, nssv14273076
SamplesHG00512, NA19238, NA19239, HG00731, HG00513
Known GenesTMEM192
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218658
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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