A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704352



Internal ID128018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:66739313..66765466hg38UCSC Ensembl
chr15:67031651..67057804hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg3826154
hg1926154
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519196
Supporting Variants
Samples
Known GenesSMAD6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704352
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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