A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276264



Internal ID22127877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:90145932..90160892hg38UCSC Ensembl
Outerchr5:89441749..89456709hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg386028
hg196028
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220951
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276264
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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