A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482718



Internal ID260166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:130495019..130495190hg38UCSC Ensembl
chr9:133370406..133370577hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028173
Samples
Known GenesASS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482718
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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