A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246479



Internal ID22051089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:109337081..109337081hg38UCSC Ensembl
chr8:110349310..110349310hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17840421
Samples
Known GenesENY2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246479
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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