A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525509



Internal ID301666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:14071655..14280291hg38UCSC Ensembl
chr18:14071654..14280290hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38208637
hg19208637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716416
Samples
Known GenesANKRD20A5P, ZNF519
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525509
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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