A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209999



Internal ID20777039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52941201..53367100hg38UCSC Ensembl
chr3:52975217..53401127hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38425900
hg19425911
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6367735
Supporting Variants
Samples
Known GenesDCP1A, PRKCD, RFT1, SFMBT1, TKT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209999
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00021


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