A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258454



Internal ID22221660
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215351
Supporting Variants
SamplesHG00733
Known GenesGOLGA6C, GOLGA6D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258454
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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