A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274000



Internal ID22231560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:131702109..131762951hg38UCSC Ensembl
Outerchr4:132623264..132684106hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3810638
hg1910638
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212532
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274000
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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