A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv469n54



Internal ID20133893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107776457..108233742hg38UCSC Ensembl
chr1:108319079..108776364hg19UCSC Ensembl
chr1:108120602..108577887hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38457286
hg19457286
hg18457286
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547338, nsv547339
Samples
Known GenesMIR7852, NBPF4, SLC25A24, VAV3, VAV3-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv469n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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