A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9550n54



Internal ID22777445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:3594565..3596307hg38UCSC Ensembl
chr5:3594679..3596421hg19UCSC Ensembl
chr5:3647679..3649421hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381743
hg191743
hg181743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv596924, nsv596926
Samples
Known GenesIRX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9550n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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