A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17427319



Internal ID22485189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32483186..32488329hg38UCSC Ensembl
chr5:32483292..32488435hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg385144
hg195144
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5903646
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17427319
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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