A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717911



Internal ID141577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46642903..46683958hg38UCSC Ensembl
chr18:44222866..44263921hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3841056
hg1941056
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5526017
Supporting Variants
Samples
Known GenesLOXHD1, ST8SIA5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717911
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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