A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721641



Internal ID145307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13988718..13988818hg38UCSC Ensembl
chr19:14099530..14099630hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145391
Supporting Variants
Samples
Known GenesRFX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721641
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001249


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