A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv442n54



Internal ID22768337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103669454..103733952hg38UCSC Ensembl
chr1:104212076..104276574hg19UCSC Ensembl
chr1:104013599..104078097hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3864499
hg1964499
hg1864499
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547191, nsv547199, nsv547188, nsv547183, nsv547192, nsv547195
Samples
Known GenesAMY1A, AMY1B, AMY1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv442n54
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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