A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552701



Internal ID15993424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133452885..133616539hg38UCSC Ensembl
Innerchr10:135266389..135430043hg19UCSC Ensembl
Innerchr10:135116379..135280033hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38163655
hg19163655
hg18163655
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1486n54
Supporting Variantsnssv1175061, nssv1175062
Samples1780854495_A, 1780854260_A
Known GenesCYP2E1, SCART1, SPRNP1, SYCE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552701
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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