A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274224



Internal ID22140351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:96797806..96815826hg38UCSC Ensembl
Outerchr4:97718957..97736977hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg381705
hg191705
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213331
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274224
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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