A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502346



Internal ID279215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69353735..69363240hg38UCSC Ensembl
chr12:69747515..69757020hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg389506
hg199506
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688875
Samples
Known GenesLYZ, YEATS4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502346
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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