A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718533



Internal ID142199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58755647..58755702hg38UCSC Ensembl
chr18:56422879..56422934hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145883
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718533
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.185597


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