A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18197294



Internal ID20764334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3121001..3122100hg38UCSC Ensembl
chr19:3120999..3122098hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6520630
Supporting Variants
Samples
Known GenesGNA11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18197294
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00208


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