A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv229n100



Internal ID22786316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103678897..103766545hg38UCSC Ensembl
chr1:104221519..104309167hg19UCSC Ensembl
chr1:104023042..104110690hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3887649
hg1987649
hg1887649
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006886, nsv997283
Samples
Known GenesAMY1A, AMY1B, AMY1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv229n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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