A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502804



Internal ID279656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:74333619..74335160hg38UCSC Ensembl
chr14:74800322..74801863hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381542
hg191542
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699286
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502804
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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