A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv255n100



Internal ID20151871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109631914..109707602hg38UCSC Ensembl
chr1:110174536..110250224hg19UCSC Ensembl
chr1:109976059..110051747hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3875689
hg1975689
hg1875689
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000503, nsv1006548, nsv1001466, nsv1009185, nsv1003083, nsv998872, nsv998022
Samples
Known GenesAMPD2, GSTM1, GSTM2, GSTM4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv255n100
Frequency
Sample Size29084
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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