A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498220



Internal ID275218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:82305969..82331159hg38UCSC Ensembl
chr12:82699748..82724938hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3825191
hg1925191
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689556
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498220
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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