A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv346n21



Internal ID22766538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78856369..78969218hg38UCSC Ensembl
chr5:78152192..78265041hg19UCSC Ensembl
chr5:78187948..78300797hg18UCSC Ensembl
chr5:78187948..78300797hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38112850
hg19112850
hg18112850
hg17112850
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv518918, nsv519629
Samples
Known GenesARSB
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)dgv346n21
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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