A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4431850



Internal ID21393852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92128225..92147224hg38UCSC Ensembl
chr12:92522001..92541000hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3819000
hg1919000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15751518
SamplesSMI041
Known GenesBTG1, C12orf79
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4431850
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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