A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273334



Internal ID22279792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177768981..177825187hg38UCSC Ensembl
Outerchr5:177195982..177252188hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3856207
hg1956207
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196338
Supporting Variants
SamplesNA19239
Known GenesFAM153A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273334
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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