A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv221n100



Internal ID20151837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103613168..103697055hg38UCSC Ensembl
chr1:104155790..104239677hg19UCSC Ensembl
chr1:103957313..104041200hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3883888
hg1983888
hg1883888
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1009203, nsv1006169, nsv1002819
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)dgv221n100
Frequency
Sample Size29084
Observed Gain18
Observed Loss32
Observed Complex0
Frequencyn/a


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