A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497476



Internal ID274509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:344152..879591hg38UCSC Ensembl
chr12:453318..988757hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38535440
hg19535440
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17051897
Samples
Known GenesB4GALNT3, CCDC77, KDM5A, NINJ2, WNK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497476
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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