A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430259



Internal ID209074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2496024..2496061hg38UCSC Ensembl
chr16:2546025..2546062hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706778
Samples
Known GenesTBC1D24
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430259
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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