A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213317



Internal ID20780357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109343101..109347500hg38UCSC Ensembl
chr5:108678802..108683201hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg384400
hg194400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6400894
Supporting Variants
Samples
Known GenesPJA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213317
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00064


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