A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17397279



Internal ID22455149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:72400188..72400357hg38UCSC Ensembl
chr18:70067423..70067592hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5937197
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17397279
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002


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