A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514967



Internal ID15813326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25281351..25515619hg38UCSC Ensembl
Innerchr22:25677318..25911586hg19UCSC Ensembl
Innerchr22:24007318..24241586hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38234269
hg19234269
hg18234269
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2869454, nssv2869442, nssv2869425, nssv2869434, nssv2869428, nssv2869445, nssv2869457, nssv2869417, nssv2869413, nssv2869437, nssv2869418, nssv2869421, nssv2869419, nssv2869450, nssv2869424, nssv2869432, nssv2869455, nssv2869426, nssv2869436, nssv2869431, nssv2869427, nssv2869415, nssv2869439, nssv2869429, nssv2869448, nssv2869443, nssv2869438, nssv2869444, nssv2869430, nssv2869456, nssv2869420, nssv2869422, nssv2869453, nssv2869414, nssv2869451, nssv2869447, nssv2869416, nssv2869435, nssv2869441, nssv2869449, nssv2869423, nssv2869440, nssv2869446, nssv2869433, nssv2869452
SamplesNA19141, NA11830, NA11995, NA18507, NA12843, NA12248, NA19107, NA18558, NA21479, NA19138, NA21365, NA12761, NA21454, NA21523, NA18973, NA21480, NA12752, NA18956, NA11839, NA19221, NA19142, NA19118, NA19181, NA11894, NA18532, NA19099, NA06985, NA21583, NA10856, NA06995, NA18632, NA19183, NA18542, NA06991, NA12716, NA18909, NA19174, NA07037, NA18911, NA19143, NA19109, NA19223, NA21363, NA07000, NA10864
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514967
Frequency
Sample Size2366
Observed Gain27
Observed Loss18
Observed Complex0
Frequencyn/a


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