A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494905



Internal ID272033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52994331..53001765hg38UCSC Ensembl
chr12:53388115..53395549hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg387435
hg197435
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058622
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494905
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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