A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552655



Internal ID15993378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133412162..133616539hg38UCSC Ensembl
Innerchr10:135225666..135430043hg19UCSC Ensembl
Innerchr10:135075656..135280033hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38204378
hg19204378
hg18204378
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1486n54
Supporting Variantsnssv1175028
Samples1780854574_A
Known GenesCYP2E1, MTG1, SCART1, SPRN, SPRNP1, SYCE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552655
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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