A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv222n100



Internal ID20151838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103613168..103717605hg38UCSC Ensembl
chr1:104155790..104260227hg19UCSC Ensembl
chr1:103957313..104061750hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38104438
hg19104438
hg18104438
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1002619, nsv1005913, nsv998655, nsv1011120, nsv1008331
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)dgv222n100
Frequency
Sample Size29084
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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