A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv393n54



Internal ID22768288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103560435..103617093hg38UCSC Ensembl
chr1:104103057..104159715hg19UCSC Ensembl
chr1:103904580..103961238hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3856659
hg1956659
hg1856659
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546951, nsv546954
Samples
Known GenesACTG1P4, AMY2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv393n54
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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