A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6039310



Internal ID21948653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108539334..108542327hg38UCSC Ensembl
chr12:108933110..108936103hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg382994
hg192994
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17613043
Samples
Known GenesSART3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6039310
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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