A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246581



Internal ID22051191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119788552..119788552hg38UCSC Ensembl
chr8:120800792..120800792hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17840058
Samples
Known GenesTAF2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246581
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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