A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246148



Internal ID22050758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73977679..73977679hg38UCSC Ensembl
chr8:74889914..74889914hg19UCSC Ensembl
Cytoband8q21.11
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 Variantsnssv17840623
Samples
Known GenesTMEM70
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246148
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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