A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1487n54



Internal ID22769382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133391295..133567238hg38UCSC Ensembl
chr10:135204799..135380742hg19UCSC Ensembl
chr10:135054789..135230732hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38175944
hg19175944
hg18175944
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv552650, nsv552661, nsv552658, nsv552653, nsv552646, nsv552660, nsv552659, nsv552649, nsv552665, nsv552662, nsv552679, nsv552654, nsv552663, nsv552664, nsv552678
SamplesHGDP00881, NINDS_89, HGDP00879, HGDP00388, HGDP01359, HGDP00534
Known GenesCYP2E1, MTG1, PAOX, SCART1, SPRN, SPRNP1, SYCE1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1487n54
Frequency
Sample Size17421
Observed Gain35
Observed Loss0
Observed Complex0
Frequencyn/a


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