A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4230n100



Internal ID22790317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1576532..1618926hg38UCSC Ensembl
chr20:1557178..1599572hg19UCSC Ensembl
chr20:1505178..1547572hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3842395
hg1942395
hg1842395
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060618, nsv1062582, nsv1057701, nsv1064545, nsv1060976, nsv1062597, nsv1061367, nsv1066579, nsv1056222, nsv1066756, nsv1062375, nsv1059849, nsv1055710, nsv1056855, nsv1056477, nsv1055305, nsv1067202, nsv1067325, nsv1057518, nsv1062117, nsv1066585, nsv1060447, nsv1064481, nsv1058480, nsv1057680, nsv1061775, nsv1056058, nsv1064711, nsv1058715, nsv1067259, nsv1061677, nsv1058436, nsv1060019, nsv1057099, nsv1065980
Samples
Known GenesSIRPB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4230n100
Frequency
Sample Size11257
Observed Gain113
Observed Loss0
Observed Complex0
Frequencyn/a


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