A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725499



Internal ID149165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54149874..54158874hg38UCSC Ensembl
chr19:54653611..54662612hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg389001
hg199002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146236
Supporting Variants
Samples
Known GenesCNOT3, LENG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725499
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.012305


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