A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4459n100



Internal ID20156075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:16384224..16837792hg38UCSC Ensembl
chr22:16864886..17318682hg19UCSC Ensembl
chr22:15244886..15698682hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38453569
hg19453797
hg18453797
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060864, nsv1063076, nsv1059876, nsv1061492, nsv1058773, nsv1065212, nsv1059873, nsv1056762, nsv1065855, nsv1062647, nsv1058669, nsv1063147, nsv1059336
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)dgv4459n100
Frequency
Sample Size29084
Observed Gain41
Observed Loss0
Observed Complex0
Frequencyn/a


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