A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv575n27



Internal ID22767304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25227356..25514700hg38UCSC Ensembl
chr22:25623323..25910667hg19UCSC Ensembl
chr22:23953323..24240667hg18UCSC Ensembl
chr22:23947877..24235221hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38287345
hg19287345
hg18287345
hg17287345
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459784, nsv459788, nsv459802, nsv459800, nsv459776, nsv459755, nsv459794, nsv459763, nsv459778, nsv459761, nsv459694, nsv459734, nsv459767, nsv459777, nsv459732, nsv459786, nsv459782, nsv459779, nsv459756, nsv459770, nsv459787, nsv459736, nsv459748, nsv459775, nsv459743, nsv459854, nsv459766, nsv459781
SamplesHGDP00665, 1780862414_A, 1780854445_A, HGDP01047, HGDP00970, HGDP00731, NINDS_35, HGDP01238, 1798860084_A, HGDP01417, HGDP00192, 1780862460_A, HGDP00298, HGDP00526, 1780846322_A, 1780862399_A, NINDS_229, 1780854235_A, 1780854341_A, HGDP00567, HGDP00689, HGDP00903, 1798860565_A, HGDP00131, HGDP00740, 1780854530_A, HGDP00583, HGDP00716
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)dgv575n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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