A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv251n54



Internal ID20133675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41525974..41530010hg38UCSC Ensembl
chr1:41991645..41995681hg19UCSC Ensembl
chr1:41764232..41768268hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg384037
hg194037
hg184037
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546107, nsv546106
Samples
Known GenesHIVEP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv251n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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