A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246544



Internal ID22051154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:115203387..115203387hg38UCSC Ensembl
chr8:116215616..116215616hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17840021
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246544
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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