A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246403



Internal ID22051013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:101278728..101278728hg38UCSC Ensembl
chr8:102290956..102290956hg19UCSC Ensembl
Cytoband8q22.3
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 Variantsnssv17840352
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246403
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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