A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4487n100



Internal ID20156103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21212930..21490993hg38UCSC Ensembl
chr22:21567219..21845282hg19UCSC Ensembl
chr22:19897219..20175282hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38278064
hg19278064
hg18278064
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1061633, nsv1065482, nsv1065610, nsv1059017, nsv1056539, nsv1062928, nsv1066498, nsv1066509, nsv1064756
Samples
Known GenesHIC2, PI4KAP2, POM121L8P, RIMBP3B, RIMBP3C, TMEM191C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4487n100
Frequency
Sample Size29084
Observed Gain182
Observed Loss0
Observed Complex0
Frequencyn/a


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