A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv607n54



Internal ID20134031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161587939..161661908hg38UCSC Ensembl
chr1:161557729..161631698hg19UCSC Ensembl
chr1:159824353..159898322hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3873970
hg1973970
hg1873970
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548071, nsv548069, nsv548067, nsv548070, nsv548073
Samples
Known GenesFCGR2C, FCGR3B, HSPA7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv607n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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