A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482145



Internal ID259604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123082633..123082734hg38UCSC Ensembl
chr9:125844912..125845013hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17027150
Samples
Known GenesRABGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482145
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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