A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4740610



Internal ID20516586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121758388..121758467hg38UCSC Ensembl
chr12:122196294..122196373hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16281280
Samples
Known GenesTMEM120B
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4740610
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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