A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204859



Internal ID20771899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:13303201..13312100hg38UCSC Ensembl
chr2:13443326..13452225hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg388900
hg198900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6345600
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204859
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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