A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504488



Internal ID281288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:86713325..86775823hg38UCSC Ensembl
chr12:87107102..87169600hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3862499
hg1962499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689823
Samples
Known GenesMGAT4C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504488
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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