A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718016



Internal ID141682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48345572..48345656hg38UCSC Ensembl
chr18:45871943..45872027hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524252
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718016
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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