A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250133



Internal ID22054743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:18894697..18894697hg38UCSC Ensembl
chr16:18906019..18906019hg19UCSC Ensembl
Cytoband16p12.3
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 Variantsnssv17847602
Samples
Known GenesSMG1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250133
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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