A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17028752



Internal ID86872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127218417..127218511hg38UCSC Ensembl
chr9:129980696..129980790hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5474395
Supporting Variants
Samples
Known GenesRALGPS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17028752
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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