A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17390246



Internal ID22448116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:18063404..18064703hg38UCSC Ensembl
chr20:18044048..18045347hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg381300
hg191300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5947109
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17390246
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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