A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv582n54



Internal ID20134006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153639657..153750561hg38UCSC Ensembl
chr1:153612133..153723037hg19UCSC Ensembl
chr1:151878757..151989661hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38110905
hg19110905
hg18110905
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547929, nsv547928
Samples1780862424_A
Known GenesCHTOP, ILF2, INTS3, MIR8083, NPR1, SNAPIN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv582n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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