A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv148n54



Internal ID18992324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15683361..15684843hg38UCSC Ensembl
chr1:16009856..16011338hg19UCSC Ensembl
chr1:15882443..15883925hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg381483
hg191483
hg181483
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545600, nsv545601
Samples
Known GenesPLEKHM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv148n54
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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