A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6240252



Internal ID22044862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128881507..128881507hg38UCSC Ensembl
chr9:131643786..131643786hg19UCSC Ensembl
Cytoband9q34.11
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 Variantsnssv17842003
Samples
Known GenesCCBL1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6240252
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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