A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716581



Internal ID140247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:22105838..22113581hg38UCSC Ensembl
chr18:19685799..19693542hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg387744
hg197744
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519592
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716581
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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