A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv114n54



Internal ID20133538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12764075..12852235hg38UCSC Ensembl
chr1:12824223..12912088hg19UCSC Ensembl
chr1:12746810..12834675hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3888161
hg1987866
hg1887866
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545446, nsv545448
Samples1798860570_A
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv114n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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