A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521276



Internal ID297571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32067048..32098621hg38UCSC Ensembl
chr18:29647011..29678584hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3831574
hg1931574
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717118
Samples
Known GenesRNF125, RNF138
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521276
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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