A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246628



Internal ID22051238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125046409..125046409hg38UCSC Ensembl
chr8:126058651..126058651hg19UCSC Ensembl
Cytoband8q24.13
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 Variantsnssv17840105
Samples
Known GenesKIAA0196
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246628
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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