A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695325



Internal ID118991
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 StatusS
Merged Variantsnsv5499452
Supporting Variants
Samples
Known GenesRPGRIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695325
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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