A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246392



Internal ID22051002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:99981725..99981725hg38UCSC Ensembl
chr8:100993953..100993953hg19UCSC Ensembl
Cytoband8q22.2
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 Variantsnssv17840342
Samples
Known GenesRGS22
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246392
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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