A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514659



Internal ID291154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12093951..12094003hg38UCSC Ensembl
chr16:12187808..12187860hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17704640
Samples
Known GenesSNX29
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514659
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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