A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17023452



Internal ID83351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:32548142..32641173hg38UCSC Ensembl
chr9:32548140..32641171hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg3893032
hg1993032
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142382
Supporting Variants
Samples
Known GenesNDUFB6, TAF1L, TOPORS, TOPORS-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17023452
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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