A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273941



Internal ID22198200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:183837155..183862881hg38UCSC Ensembl
Outerchr4:184758308..184784034hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38903
hg19903
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223966
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273941
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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