A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6258450



Internal ID22063060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125646026..125646026hg38UCSC Ensembl
chr11:125515921..125515921hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17844657
Samples
Known GenesCHEK1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6258450
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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