A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv220n100



Internal ID20151836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103589725..103766545hg38UCSC Ensembl
chr1:104132347..104309167hg19UCSC Ensembl
chr1:103933870..104110690hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38176821
hg19176821
hg18176821
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1008091, nsv1004535, nsv1012837
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)dgv220n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer