A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248194



Internal ID22052804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73918352..73918352hg38UCSC Ensembl
chr11:73629397..73629397hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17842798
Samples
Known GenesPAAF1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248194
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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