A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10001n54



Internal ID22777896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:106989206..106990598hg38UCSC Ensembl
chr5:106324907..106326299hg19UCSC Ensembl
chr5:106352806..106354198hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg381393
hg191393
hg181393
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv599329, nsv599328, nsv599330
Samples
Known GenesLOC102467213
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10001n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss382
Observed Complex0
Frequencyn/a


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