A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17842795



Internal ID22026438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73850235..73850235hg38UCSC Ensembl
chr11:73561280..73561280hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6248191
Supporting Variants
Samples
Known GenesMRPL48
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17842795
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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