A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064813



Internal ID19154032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46900925..47096389hg38UCSC Ensembl
Innerchr22:47296821..47492285hg19UCSC Ensembl
Innerchr22:45675485..45870949hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38195465
hg19195465
hg18195465
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3592266
Samples
Known GenesTBC1D22A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064813
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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