A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv418n54



Internal ID20133842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103611243..103630590hg38UCSC Ensembl
chr1:104153865..104173212hg19UCSC Ensembl
chr1:103955388..103974735hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3819348
hg1919348
hg1819348
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547095, nsv547055, nsv547074
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv418n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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