A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552659



Internal ID15993382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133422386..133567061hg38UCSC Ensembl
Innerchr10:135235890..135380565hg19UCSC Ensembl
Innerchr10:135085880..135230555hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38144676
hg19144676
hg18144676
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1487n54
Supporting Variantsnssv762703
Samples
Known GenesCYP2E1, SCART1, SPRN, SPRNP1, SYCE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552659
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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