A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv147n54



Internal ID18992323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15683361..15684581hg38UCSC Ensembl
chr1:16009856..16011076hg19UCSC Ensembl
chr1:15882443..15883663hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg381221
hg191221
hg181221
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545599, nsv545598
Samples
Known GenesPLEKHM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv147n54
Frequency
Sample Size17421
Observed Gain11
Observed Loss2
Observed Complex0
Frequencyn/a


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