A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9030n54



Internal ID22776925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:44953933..45005191hg38UCSC Ensembl
chr4:44955950..45007208hg19UCSC Ensembl
chr4:44650707..44701965hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3851259
hg1951259
hg1851259
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv594101, nsv594100, nsv594098, nsv594102, nsv594099
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9030n54
Frequency
Sample Size17421
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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