A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv225n100



Internal ID20151841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103613168..103771419hg38UCSC Ensembl
chr1:104155790..104314041hg19UCSC Ensembl
chr1:103957313..104115564hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38158252
hg19158252
hg18158252
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1012670, nsv1012026, nsv1002174, nsv999535, nsv1012377
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv225n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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