A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488042



Internal ID265363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134153372..134270977hg38UCSC Ensembl
chr9:137018494..137162823hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38117606
hg19144330
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17031104
Samples
Known GenesRNU6ATAC, WDR5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488042
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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