A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv438n54



Internal ID20133862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103660666..103756622hg38UCSC Ensembl
chr1:104203288..104299244hg19UCSC Ensembl
chr1:104004811..104100767hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3895957
hg1995957
hg1895957
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547174, nsv547186, nsv547184
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)dgv438n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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