A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202006



Internal ID22351230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:58017059..58044271hg38UCSC Ensembl
Outerchr5:57312886..57340098hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3827213
hg1927213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274900, nssv14274901, nssv14274895, nssv14274897, nssv14274898, nssv14274899, nssv14274896, nssv14274894
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202006
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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