A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8073n54



Internal ID22775968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25244661..25532653hg38UCSC Ensembl
chr22:25640628..25928620hg19UCSC Ensembl
chr22:23970628..24258620hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38287993
hg19287993
hg18287993
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588826, nsv588800, nsv588767, nsv588782, nsv588801, nsv588811, nsv588799, nsv588771, nsv588803, nsv588812, nsv588828, nsv588796, nsv588783, nsv588823
SamplesHGDP00960, HGDP00167, HGDP01229, HGDP00665, HGDP00315, 1780862414_A, HGDP01377, 1780854445_A, HGDP01047, HGDP00545, HGDP00970, HGDP00731, 1780862298_A, NINDS_35, HGDP01238, HGDP00274, NINDS_123, 1798860084_A, NINDS_195, NINDS_174, 1780862196_A, HGDP00192, HGDP01270, HGDP00141, 1780862460_A, NINDS_21, NINDS_169, HGDP01200, HGDP00298, HGDP00526, 1780862399_A, NINDS_229, HGDP01259, HGDP01091, 1780854341_A, HGDP00567, 1780862101_A, HGDP00689, HGDP00903, HGDP00681, HGDP00241, 1780862597_A, HGDP00793, HGDP00005, HGDP01228, HGDP00131, HGDP01376, 1780862584_A, HGDP00740, HGDP00213, HGDP01369, 1780854530_A, HGDP01029, HGDP00583, HGDP00819, HGDP01201, HGDP00916, 1780862505_A, HGDP00716, HGDP00313, NINDS_15, HGDP00096, HGDP00966
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8073n54
Frequency
Sample Size17421
Observed Gain89
Observed Loss82
Observed Complex0
Frequencyn/a


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