A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5625n100



Internal ID20157241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33520482..33546296hg38UCSC Ensembl
chr5:33520587..33546401hg19UCSC Ensembl
chr5:33556344..33582158hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3825815
hg1925815
hg1825815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1025906, nsv1027754
Samples
Known GenesADAMTS12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5625n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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