A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv217n100



Internal ID20151833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103556018..103697055hg38UCSC Ensembl
chr1:104098640..104239677hg19UCSC Ensembl
chr1:103900163..104041200hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38141038
hg19141038
hg18141038
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006786, nsv1013113, nsv1000137, nsv1013997, nsv1009329, nsv1012909, nsv999791, nsv999170, nsv1013173, nsv1000768, nsv998114, nsv1009782
Samples
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv217n100
Frequency
Sample Size29084
Observed Gain52
Observed Loss0
Observed Complex0
Frequencyn/a


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