A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv411n54



Internal ID20133835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103610478..103651467hg38UCSC Ensembl
chr1:104153100..104194089hg19UCSC Ensembl
chr1:103954623..103995612hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3840990
hg1940990
hg1840990
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547101, nsv547058, nsv547034, nsv547100, nsv547075, nsv547099
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv411n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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