A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv552695



Internal ID15993418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133444643..133563944hg38UCSC Ensembl
Innerchr10:135258147..135377448hg19UCSC Ensembl
Innerchr10:135108137..135227438hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38119302
hg19119302
hg18119302
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1493n54
Supporting Variantsnssv1175038, nssv1175043, nssv1175039, nssv1175049, nssv1175033, nssv1175051, nssv1175036, nssv1175032, nssv1175047, nssv1175034, nssv1175042, nssv1175052, nssv1175031, nssv1175044, nssv1175037, nssv1175050, nssv1175048, nssv1175040, nssv1175046, nssv1175041, nssv1175045, nssv1175035
SamplesHGDP01247, HGDP00713, HGDP00768, HGDP00141, HGDP00066, HGDP00939, HGDP00062, HGDP00926, HGDP00775, HGDP00653, HGDP00473, HGDP00602, HGDP00741, HGDP00458, HGDP00733, HGDP00976, HGDP00686, HGDP00718, HGDP00037, HGDP01358, HGDP00456, HGDP00875
Known GenesCYP2E1, SCART1, SYCE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv552695
Frequency
Sample Size17421
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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