A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424782



Internal ID203758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:14185297..14185392hg38UCSC Ensembl
chr17:14088614..14088709hg19UCSC Ensembl
Cytoband17p12
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 Variantsnssv17711606
Samples
Known GenesCOX10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424782
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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