A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17416454



Internal ID22474324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:108990444..109014111hg38UCSC Ensembl
chr5:108326145..108349812hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3823668
hg1923668
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5900043
Supporting Variants
Samples
Known GenesFER
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17416454
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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