A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6085392



Internal ID21994625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79293405..79293405hg38UCSC Ensembl
chr12:79687185..79687185hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17617242
Samples
Known GenesSYT1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6085392
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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