A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432339



Internal ID211085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48785638..48785689hg38UCSC Ensembl
chr15:49077835..49077886hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17703013
Samples
Known GenesCEP152
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432339
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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