A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517092



Internal ID293522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:15719000..15733111hg38UCSC Ensembl
chr17:15622314..15636425hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3814112
hg1914112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711721
Samples
Known GenesTBC1D26, ZNF286A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517092
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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