A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17414711



Internal ID22472581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:169547796..169557295hg38UCSC Ensembl
chr5:168974800..168984299hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg389500
hg199500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5906313
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17414711
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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