A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258433



Internal ID22132450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:23424503..23499152hg38UCSC Ensembl
Outerchr15:23669650..23744299hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3874650
hg1974650
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218796
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258433
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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