A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv285n54



Internal ID20133709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59583022..59583741hg38UCSC Ensembl
chr1:60048694..60049413hg19UCSC Ensembl
chr1:59821282..59822001hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38720
hg19720
hg18720
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546334, nsv546340, nsv546324, nsv546325, nsv546335, nsv546326, nsv546327
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv285n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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