A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4461n100



Internal ID22790548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:16549902..16873057hg38UCSC Ensembl
chr22:17030792..17353947hg19UCSC Ensembl
chr22:15410792..15733947hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38323156
hg19323156
hg18323156
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060934, nsv1056069, nsv1056188
Samples
Known GenesANKRD62P1-PARP4P3, CCT8L2, HSFY1P1, TPTEP1, XKR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4461n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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