A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv432n54



Internal ID20133856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103622603..103654458hg38UCSC Ensembl
chr1:104165225..104197080hg19UCSC Ensembl
chr1:103966748..103998603hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3831856
hg1931856
hg1831856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547108, nsv547125, nsv547126
Samples
Known GenesAMY2A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv432n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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