A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16281270



Internal ID20490488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54185467..54185524hg38UCSC Ensembl
chr12:54579251..54579308hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4742464
Supporting Variants
Samples
Known GenesSMUG1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16281270
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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