A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3731784



Internal ID18683379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16384224..16777918hg38UCSC Ensembl
Innerchr22:16864886..17258808hg19UCSC Ensembl
Innerchr22:15244886..15638808hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38393695
hg19393923
hg18393923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1061492
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)nssv3731784
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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