A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17027148



Internal ID85814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123042024..123042075hg38UCSC Ensembl
chr9:125804303..125804354hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5412215
Supporting Variants
Samples
Known GenesRABGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17027148
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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