A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16276547



Internal ID20485765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116113709..116113791hg38UCSC Ensembl
chr12:116551514..116551596hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4738341
Supporting Variants
Samples
Known GenesMED13L
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16276547
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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