A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9493n54



Internal ID22777388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:474507..487159hg38UCSC Ensembl
chr5:474622..487274hg19UCSC Ensembl
chr5:527622..540274hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3812653
hg1912653
hg1812653
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv596693, nsv596694
Samples
Known GenesSLC9A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9493n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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