A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9717n54



Internal ID22777612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:34656185..34657239hg38UCSC Ensembl
chr5:34656290..34657344hg19UCSC Ensembl
chr5:34692047..34693101hg18UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg381055
hg191055
hg181055
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv597803, nsv597800
Samples
Known GenesRAI14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9717n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss2
Observed Complex0
Frequencyn/a


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