A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6241679



Internal ID22046289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:91056780..91056780hg38UCSC Ensembl
chr14:91523124..91523124hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17846416
Samples
Known GenesRPS6KA5
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6241679
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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