A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv444n21



Internal ID20132165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6429821..6434003hg38UCSC Ensembl
chr8:6287342..6291524hg19UCSC Ensembl
chr8:6274750..6278932hg18UCSC Ensembl
chr8:6274750..6278932hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg384183
hg194183
hg184183
hg174183
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv526687, nsv517509
Samples
Known GenesMCPH1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)dgv444n21
Frequency
Sample Size2026
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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