A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430701



Internal ID209499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:65763248..65763299hg38UCSC Ensembl
chr17:63759366..63759417hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715475
Samples
Known GenesCEP112
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430701
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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