A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16272052



Internal ID20481270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116124133..116124133hg38UCSC Ensembl
chr12:116561938..116561938hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4752817
Supporting Variants
Samples
Known GenesMED13L
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16272052
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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