A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062647



Internal ID18805178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16384224..16747906hg38UCSC Ensembl
Innerchr22:16864886..17228796hg19UCSC Ensembl
Innerchr22:15244886..15608796hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38363683
hg19363911
hg18363911
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4459n100
Supporting Variantsnssv3589280
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)nsv1062647
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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