A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3589279



Internal ID18540874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16384224..16685374hg38UCSC Ensembl
Innerchr22:16864886..17166264hg19UCSC Ensembl
Innerchr22:15244886..15546264hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38301151
hg19301379
hg18301379
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1065480
Supporting Variants
Samples
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3589279
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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