A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5528208



Internal ID304275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:35009017..35009270hg38UCSC Ensembl
chr18:32588981..32589234hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717284
Samples
Known GenesMAPRE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5528208
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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