A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248160



Internal ID22052770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67274522..67274522hg38UCSC Ensembl
chr11:67041993..67041993hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17842764
Samples
Known GenesADRBK1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248160
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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