A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499057



Internal ID276037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23130028..23130083hg38UCSC Ensembl
chr14:23599237..23599292hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693958
Samples
Known GenesSLC7A8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499057
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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