A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204716



Internal ID22353524
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272676, nssv14272677, nssv14272679, nssv14272678, nssv14272680
SamplesHG00512, NA19238, HG00731, HG00733, HG00513
Known GenesFSTL4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204716
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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