A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723760



Internal ID147426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47316619..47316655hg38UCSC Ensembl
chr19:47819876..47819912hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5553603
Supporting Variants
Samples
Known GenesC5AR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723760
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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