A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502423



Internal ID279292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96742398..96743639hg38UCSC Ensembl
chr14:97208735..97209976hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381242
hg191242
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698704
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502423
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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