A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv694n54



Internal ID20134118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:190094081..190147232hg38UCSC Ensembl
chr1:190063211..190116362hg19UCSC Ensembl
chr1:188329834..188382985hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3853152
hg1953152
hg1853152
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548548, nsv548549, nsv548547, nsv548550
Samples
Known GenesBRINP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv694n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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