A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519196



Internal ID295551
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 StatusM
Merged Variants
Supporting Variantsnssv17704352
Samples
Known GenesSMAD6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519196
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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