A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250218



Internal ID22054828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29981492..29981492hg38UCSC Ensembl
chr16:29992813..29992813hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17848804
Samples
Known GenesTAOK2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250218
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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