A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7998n54



Internal ID19000174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21953009..22245798hg38UCSC Ensembl
chr22:22307381..22600210hg19UCSC Ensembl
chr22:20637381..20930210hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38292790
hg19292830
hg18292830
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588338, nsv588357, nsv588358, nsv588328, nsv588325, nsv588339
Samples1798860049_A, HGDP00793
Known GenesTOP3B, VPREB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7998n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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