A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4741304



Internal ID20517281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111933549..111933614hg38UCSC Ensembl
chr12:112371353..112371418hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16273259
Samples
Known GenesTMEM116
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4741304
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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