A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv535n54



Internal ID18992711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148241781..148355701hg38UCSC Ensembl
chr1:147714052..147827829hg19UCSC Ensembl
chr1:146180676..146294453hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38113921
hg19113778
hg18113778
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv547681, nsv547680
Samples
Known GenesMIR5087, NBPF10, NBPF8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv535n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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