A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588071



Internal ID16375480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16551808..16671721hg38UCSC Ensembl
Innerchr22:17032698..17152611hg19UCSC Ensembl
Innerchr22:15412698..15532611hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38119914
hg19119914
hg18119914
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151248, nssv1151247, nssv1151250, nssv1151249
SamplesHGDP00631, HGDP00607, HGDP00653, HGDP00618
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588071
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer