A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17411812



Internal ID22469682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:107419046..107423986hg38UCSC Ensembl
chr5:106754747..106759687hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg384941
hg194941
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5895956
Supporting Variants
Samples
Known GenesEFNA5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17411812
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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