A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500956



Internal ID277873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75251764..75263425hg38UCSC Ensembl
chr14:75718467..75730128hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3811662
hg1911662
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697905
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500956
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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