A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498071



Internal ID275078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:34954492..34961141hg38UCSC Ensembl
chr14:35423698..35430347hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg386650
hg196650
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695526
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498071
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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