A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6024254



Internal ID21933597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123376089..123386504hg38UCSC Ensembl
chr12:123860636..123871051hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3810416
hg1910416
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17611403
Samples
Known GenesSETD8
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6024254
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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