A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1493n54



Internal ID18993669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133438843..133567238hg38UCSC Ensembl
chr10:135252347..135380742hg19UCSC Ensembl
chr10:135102337..135230732hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38128396
hg19128396
hg18128396
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv552686, nsv552692, nsv552681, nsv552696, nsv552694, nsv552698, nsv552706, nsv552688, nsv552695, nsv552693, nsv552687, nsv552689, nsv552697, nsv552691, nsv552705, nsv552699
SamplesNINDS_255, NINDS_34, HGDP00775, HGDP00458, HGDP00891, HGDP00653, HGDP00686, HGDP00939, NINDS_155, HGDP00066, 1780862175_A, HGDP01358, NINDS_136, HGDP00037, NINDS_49, HGDP01152, HGDP01247, HGDP00733, HGDP00141, HGDP00976, HGDP00741, HGDP00718, HGDP01036, HGDP00926, HGDP00602, HGDP00456, HGDP00875, HGDP00473, HGDP00713, HGDP00062, HGDP00768
Known GenesCYP2E1, SCART1, SPRNP1, SYCE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1493n54
Frequency
Sample Size17421
Observed Gain83
Observed Loss0
Observed Complex0
Frequencyn/a


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