A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv295n54



Internal ID20133719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59640597..59641368hg38UCSC Ensembl
chr1:60106269..60107040hg19UCSC Ensembl
chr1:59878857..59879628hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38772
hg19772
hg18772
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546366, nsv546365, nsv546364
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv295n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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