A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246633



Internal ID22051243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125663876..125663876hg38UCSC Ensembl
chr8:126676120..126676120hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17840110
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246633
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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