A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv394n54



Internal ID20133818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103560435..103640666hg38UCSC Ensembl
chr1:104103057..104183288hg19UCSC Ensembl
chr1:103904580..103984811hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3880232
hg1980232
hg1880232
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546956, nsv546958, nsv546957, nsv546973, nsv546952
Samples
Known GenesACTG1P4, AMY2A, AMY2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv394n54
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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