A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv55n54



Internal ID20133479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3167521..3168255hg38UCSC Ensembl
chr1:3084085..3084819hg19UCSC Ensembl
chr1:3073945..3074679hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38735
hg19735
hg18735
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545105, nsv545119
Samples
Known GenesPRDM16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv55n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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