A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258483



Internal ID22145092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:94645585..94650116hg38UCSC Ensembl
Outerchr15:95188814..95193345hg19UCSC Ensembl
Cytoband15q26.2
Allele length
AssemblyAllele length
hg384532
hg194532
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225977
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258483
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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