A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497134



Internal ID274187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133537130..133662130hg38UCSC Ensembl
chr10:135350634..135475634hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38125001
hg19125001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17043521
Samples
Known GenesCYP2E1, FRG2B, SPRNP1, SYCE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497134
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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