A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499974



Internal ID276925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:82791518..82804566hg38UCSC Ensembl
chr14:83257862..83270910hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3813049
hg1913049
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17699067
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499974
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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