A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520549



Internal ID15447842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46913455..46919648hg38UCSC Ensembl
Innerchr22:47309351..47315544hg19UCSC Ensembl
Innerchr22:45688015..45694208hg18UCSC Ensembl
Innerchr22:45629870..45636063hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg386194
hg196194
hg186194
hg176194
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697480
Samples
Known GenesTBC1D22A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520549
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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