A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246472



Internal ID22051082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:108600902..108600902hg38UCSC Ensembl
chr8:109613131..109613131hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17840414
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246472
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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