A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17028812



Internal ID86919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128541324..128541375hg38UCSC Ensembl
chr9:131303603..131303654hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559459
Supporting Variants
Samples
Known GenesGLE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17028812
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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