A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4458n100



Internal ID20156074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:16384224..16685374hg38UCSC Ensembl
chr22:16864886..17166264hg19UCSC Ensembl
chr22:15244886..15546264hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38301151
hg19301379
hg18301379
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064589, nsv1065480
Samples
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4458n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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