A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059994



Internal ID18802525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29401384..29438777hg38UCSC Ensembl
Innerchr22:29797373..29834766hg19UCSC Ensembl
Innerchr22:28127373..28164766hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3837394
hg1937394
hg1837394
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600792
Samples
Known GenesRFPL1, RFPL1S
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059994
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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