A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061492



Internal ID18804023
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 StatusM
Merged Variantsdgv4459n100
Supporting Variantsnssv3589282, nssv3731784, nssv3731785
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)nsv1061492
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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