A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17410482



Internal ID22468352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131418863..131418912hg38UCSC Ensembl
chr5:130754556..130754605hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5896239
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17410482
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1.00


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