A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv399n54



Internal ID22768294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103579055..103591836hg38UCSC Ensembl
chr1:104121677..104134458hg19UCSC Ensembl
chr1:103923200..103935981hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3812782
hg1912782
hg1812782
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546982, nsv546980
Samples
Known GenesAMY2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv399n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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