A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6240759



Internal ID22045369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21482043..21482043hg38UCSC Ensembl
chr12:21634977..21634977hg19UCSC Ensembl
Cytoband12p12.1
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 Variantsnssv17843398
Samples
Known GenesRECQL
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6240759
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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