A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272676



Internal ID22118789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:133577693..133601541hg38UCSC Ensembl
Outerchr5:132913384..132937232hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3823849
hg1923849
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204716
Supporting Variants
SamplesHG00512
Known GenesFSTL4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272676
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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