A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17419884



Internal ID22477754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40694448..40694561hg38UCSC Ensembl
chr5:40694550..40694663hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5890336
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17419884
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005


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