A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6248339



Internal ID22052949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:93497077..93497077hg38UCSC Ensembl
chr11:93230243..93230243hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17843051
Samples
Known GenesSMCO4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6248339
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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