A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588800



Internal ID16376209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25514700hg38UCSC Ensembl
Innerchr22:25664408..25910667hg19UCSC Ensembl
Innerchr22:23994408..24240667hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38246260
hg19246260
hg18246260
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8073n54
Supporting Variantsnssv954420, nssv954427, nssv954413, nssv1151706, nssv1151687, nssv1151690, nssv1151702, nssv1151704, nssv954419, nssv954421, nssv954423, nssv1151689, nssv954425, nssv954416, nssv1151700, nssv1151699, nssv1151697, nssv1151695, nssv1151686, nssv1151688, nssv1151694, nssv1151696, nssv954417, nssv954418, nssv1151691, nssv954414, nssv1151705, nssv1151703, nssv1151684, nssv1151683, nssv954415, nssv1151698, nssv1151692, nssv1151685, nssv1151701, nssv954424, nssv954422, nssv1151693, nssv954426
SamplesHGDP00960, 1780862414_A, 1780854445_A, HGDP00731, NINDS_35, HGDP01238, 1798860084_A, NINDS_174, 1780862196_A, HGDP00192, HGDP01270, 1780862460_A, HGDP00298, 1780862399_A, HGDP01091, HGDP00689, HGDP00903, HGDP00681, HGDP00005, HGDP00740, HGDP01369, HGDP01029, HGDP00583, HGDP00916
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)nsv588800
Frequency
Sample Size17421
Observed Gain11
Observed Loss28
Observed Complex0
Frequencyn/a


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