A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501506



Internal ID278403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52099355..52100166hg38UCSC Ensembl
chr12:52493139..52493950hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38812
hg19812
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058744
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501506
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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