A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499862



Internal ID276816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103118296..103118352hg38UCSC Ensembl
chr12:103512074..103512130hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690445
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499862
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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