A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6250042



Internal ID22054652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4069302..4069302hg38UCSC Ensembl
chr16:4119303..4119303hg19UCSC Ensembl
Cytoband16p13.3
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 Variantsnssv17846738
Samples
Known GenesADCY9
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6250042
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