A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066540



Internal ID18809071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16384224..17135620hg38UCSC Ensembl
Innerchr22:16864886..17616510hg19UCSC Ensembl
Innerchr22:15244886..15996510hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38751397
hg19751625
hg18751625
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4460n100
Supporting Variantsnssv3589308
Samples
Known GenesANKRD62P1-PARP4P3, CCT8L2, CECR6, CECR7, GAB4, HSFY1P1, IL17RA, LOC100996342, TPTEP1, XKR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066540
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