A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv576n27



Internal ID22767305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25227356..25562985hg38UCSC Ensembl
chr22:25623323..25958952hg19UCSC Ensembl
chr22:23953323..24288952hg18UCSC Ensembl
chr22:23947877..24283506hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38335630
hg19335630
hg18335630
hg17335630
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459801, nsv459697, nsv459715, nsv459698, nsv459764, nsv459746, nsv459749, nsv459753, nsv459738, nsv459791, nsv459695, nsv459789, nsv459769, nsv459723, nsv459717, nsv459797, nsv459713, nsv459705, nsv459728, nsv459793, nsv459741, nsv459803, nsv459754, nsv459759, nsv459710, nsv459714, nsv459765, nsv459757, nsv459724, nsv459737, nsv459733, nsv459700, nsv459706, nsv459750, nsv459726, nsv459780, nsv459727, nsv459771, nsv459744, nsv459768, nsv459709, nsv459790, nsv459758, nsv459747, nsv459795, nsv459735, nsv459703, nsv459702, nsv459712, nsv459721, nsv459730, nsv459783, nsv459798, nsv459739, nsv459752, nsv459799, nsv459760, nsv459708, nsv459720, nsv459731, nsv459745, nsv459722, nsv459725, nsv459701, nsv459711, nsv459772, nsv459699, nsv459719
SamplesHGDP00960, HGDP00167, HGDP01229, 1780854123_A, HGDP00315, HGDP01377, NINDS_209, HGDP00545, 1787431167_A, 1780862298_A, HGDP01356, HGDP01334, HGDP00274, NINDS_123, HGDP00815, NINDS_195, 1780862356_A, NINDS_174, HGDP00580, 1782681169_A, 1780862196_A, 1780854129_A, HGDP01270, HGDP00141, 1780854467_A, NINDS_21, NINDS_169, HGDP00216, HGDP01200, 1798860592_A, HGDP01239, HGDP01259, HGDP01290, HGDP01387, HGDP01096, HGDP00015, HGDP00423, 1780854198_A, NINDS_210, 1780862101_A, NINDS_225, HGDP00938, 1780862160_A, HGDP00804, HGDP00241, HGDP01193, 1780862597_A, HGDP00234, HGDP01245, HGDP00005, HGDP00974, HGDP00880, HGDP01228, HGDP01376, 1780862584_A, HGDP00213, NINDS_203, HGDP01369, HGDP01029, HGDP00264, HGDP00819, HGDP01201, 1780862505_A, HGDP00313, NINDS_15, HGDP00096, HGDP00966, HGDP00330
Known GenesCRYBB2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)dgv576n27
Frequency
Sample Size1557
Observed Gain68
Observed Loss0
Observed Complex0
Frequencyn/a


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