A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16281280



Internal ID20490498
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 StatusS
Merged Variantsnsv4740610
Supporting Variants
Samples
Known GenesTMEM120B
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16281280
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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