A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248127



Internal ID22052737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62686539..62686539hg38UCSC Ensembl
chr11:62454011..62454011hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17842594
Samples
Known GenesLRRN4CL
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248127
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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