A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718535



Internal ID142201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58775034..58775378hg38UCSC Ensembl
chr18:56442266..56442610hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144617
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718535
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003283


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