A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215351



Internal ID22361714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:75237567..75298056hg38UCSC Ensembl
Outerchr15:75529908..75590397hg19UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg3860490
hg1960490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258454, nssv14258452, nssv14258453
SamplesHG00512, HG00732, HG00733
Known GenesGOLGA6C, GOLGA6D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215351
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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