A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248196



Internal ID22052806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:74212392..74212392hg38UCSC Ensembl
chr11:73923437..73923437hg19UCSC 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 Variantsnssv17842800
Samples
Known GenesPPME1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248196
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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