A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7997n54



Internal ID19000173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21930141..22225921hg38UCSC Ensembl
chr22:22284513..22580314hg19UCSC Ensembl
chr22:20614513..20910314hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38295781
hg19295802
hg18295802
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588347, nsv588349, nsv588333, nsv588323, nsv588332, nsv588331, nsv588346, nsv588324, nsv588334, nsv588341, nsv588344, nsv588330, nsv588337, nsv588335, nsv588345, nsv588327, nsv588342, nsv588350, nsv588326, nsv588351
SamplesHGDP00954, NINDS_202, 1780854100_A, 1780854430_A, HGDP01211, HGDP00674, HGDP01396
Known GenesPPM1F, TOP3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7997n54
Frequency
Sample Size17421
Observed Gain28
Observed Loss0
Observed Complex0
Frequencyn/a


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