A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6083247



Internal ID21992480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108533211..108533211hg38UCSC Ensembl
chr12:108926987..108926987hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17609817
Samples
Known GenesSART3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6083247
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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