A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250161



Internal ID22054771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21726744..21726744hg38UCSC Ensembl
chr16:21738065..21738065hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17847633
Samples
Known GenesOTOA
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250161
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer