A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv54n54



Internal ID20133478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3167521..3168152hg38UCSC Ensembl
chr1:3084085..3084716hg19UCSC Ensembl
chr1:3073945..3074576hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38632
hg19632
hg18632
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545107, nsv545115, nsv545108, nsv545109, nsv545104, nsv545118, nsv545114
Samples
Known GenesPRDM16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv54n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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