A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209335



Internal ID20776375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48413918..48470639hg38UCSC Ensembl
chr3:48455327..48512038hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3856722
hg1956712
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6364784
Supporting Variants
Samples
Known GenesATRIP, CCDC51, PLXNB1, SHISA5, TMA7, TREX1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209335
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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