A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5536044



Internal ID311605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:116530105..116530148hg38UCSC Ensembl
chr9:119292384..119292427hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028435
Samples
Known GenesASTN2, LOC100128505
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5536044
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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