A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201645



Internal ID20768686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169466408..169466725hg38UCSC Ensembl
chr1:169435646..169435963hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6327166
Supporting Variants
Samples
Known GenesSLC19A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201645
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00082


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