A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552678



Internal ID15993401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133431837..133566995hg38UCSC Ensembl
Innerchr10:135245341..135380499hg19UCSC Ensembl
Innerchr10:135095331..135230489hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38135159
hg19135159
hg18135159
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1487n54
Supporting Variantsnssv762904, nssv762905
Samples
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)nsv552678
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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