A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246263



Internal ID22050873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86481560..86481560hg38UCSC Ensembl
chr8:87493789..87493789hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839987
Samples
Known GenesRMDN1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246263
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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