A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552714



Internal ID15993437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133487766..133566287hg38UCSC Ensembl
Innerchr10:135301270..135379791hg19UCSC Ensembl
Innerchr10:135151260..135229781hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3878522
hg1978522
hg1878522
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1495n54
Supporting Variantsnssv762993
Samples
Known GenesCYP2E1, SYCE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552714
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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