A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4460n100



Internal ID20156076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:16384224..17135620hg38UCSC Ensembl
chr22:16864886..17616510hg19UCSC Ensembl
chr22:15244886..15996510hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38751397
hg19751625
hg18751625
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1056667, nsv1066540, nsv1067498, nsv1062864, nsv1059800
Samples
Known GenesANKRD62P1-PARP4P3, CCT8L2, CECR6, CECR7, GAB4, HSFY1P1, IL17RA, LOC100996342, 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)dgv4460n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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