A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17416376



Internal ID22474246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:95951411..95967450hg38UCSC Ensembl
chr5:95287115..95303154hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3816040
hg1916040
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5896343
Supporting Variants
Samples
Known GenesELL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17416376
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.01


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