A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552716



Internal ID15993439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133489528..133588696hg38UCSC Ensembl
Innerchr10:135303032..135402200hg19UCSC Ensembl
Innerchr10:135153022..135252190hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3899169
hg1999169
hg1899169
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1495n54
Supporting Variantsnssv1175065
Samples1780854158_A
Known GenesCYP2E1, SPRNP1, SYCE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552716
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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