A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527494



Internal ID303593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2431605..2434562hg38UCSC Ensembl
chr16:2481606..2484563hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382958
hg192958
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706770
Samples
Known GenesCCNF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527494
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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