A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492376



Internal ID269590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:124358360..124433955hg38UCSC Ensembl
chr9:127120639..127196234hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3875596
hg1975596
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028606
Samples
Known GenesLOC100129034, PSMB7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492376
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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