A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5526332



Internal ID302465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12624291..12628774hg38UCSC Ensembl
chr18:12624290..12628773hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg384484
hg194484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716319
Samples
Known GenesSPIRE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5526332
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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