A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514054



Internal ID290558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67578984..67590721hg38UCSC Ensembl
chr16:67612887..67624624hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3811738
hg1911738
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707516
Samples
Known GenesCTCF
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514054
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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