A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246627



Internal ID22051237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125044310..125044310hg38UCSC Ensembl
chr8:126056552..126056552hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17840104
Samples
Known GenesKIAA0196
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246627
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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