A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv218n100



Internal ID20151834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103556018..103725588hg38UCSC Ensembl
chr1:104098640..104268210hg19UCSC Ensembl
chr1:103900163..104069733hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38169571
hg19169571
hg18169571
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011775, nsv997428, nsv1000575, nsv1001037, nsv1009028, nsv1000983, nsv1009209, nsv1012491, nsv998680, nsv1000823, nsv1002572, nsv1007226, nsv1009630, nsv1011154, nsv1000835
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)dgv218n100
Frequency
Sample Size29084
Observed Gain170
Observed Loss0
Observed Complex0
Frequencyn/a


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