A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6142382



Internal ID341582
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 StatusM
Merged Variants
Supporting Variantsnssv17023452
Samples
Known GenesNDUFB6, TAF1L, TOPORS, TOPORS-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6142382
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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