A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5526433



Internal ID302563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:64822..137264hg38UCSC Ensembl
chr16:114820..187263hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3872443
hg1972444
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17705636
Samples
Known GenesMPG, NPRL3, RHBDF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5526433
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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