A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7996n54



Internal ID22775891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21363775..21417948hg38UCSC Ensembl
chr22:21718064..21772237hg19UCSC Ensembl
chr22:20048064..20102237hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3854174
hg1954174
hg1854174
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588319, nsv588315, nsv588312, nsv588313, nsv588314, nsv588318, nsv588317, nsv588316
Samples
Known GenesHIC2, RIMBP3B, RIMBP3C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7996n54
Frequency
Sample Size17421
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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