A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511043



Internal ID287645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50000589..50000649hg38UCSC Ensembl
chr14:50467307..50467367hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696690
Samples
Known GenesC14orf182
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511043
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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