A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250386



Internal ID22054996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68283591..68283591hg38UCSC Ensembl
chr16:68317494..68317494hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17847721
Samples
Known GenesSLC7A6
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250386
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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