A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509316



Internal ID285974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92949914..92956128hg38UCSC Ensembl
chr12:93343690..93349904hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg386215
hg196215
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690035
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509316
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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