A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717619



Internal ID141285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41093885..41100939hg38UCSC Ensembl
chr18:38673849..38680903hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg387055
hg197055
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5514335
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717619
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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