A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273529



Internal ID22230047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:40282704..40310410hg38UCSC Ensembl
Outerchr4:40284324..40312427hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg383403
hg193403
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211071
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273529
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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