A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17027143



Internal ID85811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:122989084..122989182hg38UCSC Ensembl
chr9:125751363..125751461hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141886
Supporting Variants
Samples
Known GenesRABGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17027143
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005778


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