A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199766



Internal ID20766806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:118648268..119098475hg38UCSC Ensembl
chr1:119190891..119641098hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38450208
hg19450208
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6326026
Supporting Variants
Samples
Known GenesTBX15, WARS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199766
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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