A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427715



Internal ID206612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:15306680..15306731hg38UCSC Ensembl
chr17:15209997..15210048hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711680
Samples
Known GenesTEKT3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427715
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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