A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499452



Internal ID276424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21338140..21348848hg38UCSC Ensembl
chr14:21806299..21817007hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3810709
hg1910709
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695325
Samples
Known GenesRPGRIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499452
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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