A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4491n100



Internal ID20156107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21454896..21597273hg38UCSC Ensembl
chr22:21809185..21951562hg19UCSC Ensembl
chr22:20139185..20281562hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38142378
hg19142378
hg18142378
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1058580, nsv1064360, nsv1060702, nsv1060781, nsv1067125
Samples
Known GenesPI4KAP2, RIMBP3B, RIMBP3C, TMEM191C, UBE2L3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4491n100
Frequency
Sample Size29084
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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