A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17613199



Internal ID21805246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:86167898..86375831hg38UCSC Ensembl
chr12:86561676..86769609hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38207934
hg19207934
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6030074
Supporting Variants
Samples
Known GenesMGAT4C
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17613199
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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