A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475291



Internal ID252932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:19325020..19535880hg38UCSC Ensembl
chr9:19325018..19535878hg19UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg38210861
hg19210861
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv535n206
Supporting Variantsnssv17021758
Samples
Known GenesACER2, DENND4C, RPS6, SLC24A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475291
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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