A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216559



Internal ID22362517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:71581124..71593572hg38UCSC Ensembl
Outerchr15:71873463..71885911hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg3812449
hg1912449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258445, nssv14258447, nssv14258446
SamplesHG00512, HG00731, HG00514
Known GenesTHSD4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216559
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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