A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214057



Internal ID20781097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55685801..55695400hg38UCSC Ensembl
chr5:54981629..54991228hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg389600
hg199600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6412650
Supporting Variants
Samples
Known GenesSLC38A9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214057
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00092


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