A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197628



Internal ID22347483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1901033..1976127hg38UCSC Ensembl
Outerchr5:1901147..1976241hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3875095
hg1975095
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274331, nssv14274333, nssv14274338, nssv14274337, nssv14274332, nssv14274336, nssv14274334, nssv14274335
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197628
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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