A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246060



Internal ID22050670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63018969..63018969hg38UCSC Ensembl
chr8:63931528..63931528hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839671
Samples
Known GenesGGH
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246060
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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