A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469520



Internal ID247304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:5758056..5912175hg38UCSC Ensembl
chr7:5797687..5951806hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38154120
hg19154120
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16991953
Samples
Known GenesCCZ1, OCM, RNF216, ZNF815P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469520
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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