A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv287n54



Internal ID20133711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59583022..59584019hg38UCSC Ensembl
chr1:60048694..60049691hg19UCSC Ensembl
chr1:59821282..59822279hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38998
hg19998
hg18998
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546346, nsv546347, nsv546338, nsv546330, nsv546348, nsv546343
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv287n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss116
Observed Complex0
Frequencyn/a


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