A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18197352



Internal ID20764392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12587947..12593325hg38UCSC Ensembl
chr19:12698761..12704139hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg385379
hg195379
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6523356
Supporting Variants
Samples
Known GenesZNF490
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18197352
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00076


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