A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246670



Internal ID22051280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130868298..130868298hg38UCSC Ensembl
chr8:131880544..131880544hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17840234
Samples
Known GenesADCY8
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246670
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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