A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258471



Internal ID22132476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:41380094..41465621hg38UCSC Ensembl
Outerchr15:41672292..41757819hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3885528
hg1985528
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228201
Supporting Variants
SamplesHG00513
Known GenesNDUFAF1, NUSAP1, RTF1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258471
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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