A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv56n54



Internal ID20133480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3167572..3168255hg38UCSC Ensembl
chr1:3084136..3084819hg19UCSC Ensembl
chr1:3073996..3074679hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38684
hg19684
hg18684
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545110, nsv545116
Samples
Known GenesPRDM16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv56n54
Frequency
Sample Size17421
Observed Gain19
Observed Loss15
Observed Complex0
Frequencyn/a


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