A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246113



Internal ID22050723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70610960..70610960hg38UCSC Ensembl
chr8:71523195..71523195hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17840592
Samples
Known GenesLOC286190
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246113
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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