A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442749



Internal ID15154782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46323701..46674934hg38UCSC Ensembl
Innerchr17:44401067..44752300hg19UCSC Ensembl
Innerchr17:41756832..42107479hg18UCSC Ensembl
Innerchr17:41756832..42107479hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38351234
hg19351234
hg18350648
hg17350648
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1651465, nssv1651416, nssv1651404, nssv1651414, nssv1651399, nssv1651379, nssv1651430, nssv1651493, nssv1651499, nssv1651348, nssv1651409, nssv1651491, nssv1651393, nssv1651444, nssv1651406, nssv1651338, nssv1651352, nssv1651462, nssv1651410, nssv1651363, nssv1651490, nssv1651418, nssv1651434, nssv1651364, nssv1651344, nssv1651354, nssv1651452, nssv1651477, nssv1651479, nssv1651369, nssv1651504, nssv1651440, nssv1651381, nssv1651367, nssv1651459, nssv1651370, nssv1651436, nssv1651450, nssv1651466, nssv1651417, nssv1651435, nssv1651402, nssv1651451, nssv1651458, nssv1651361, nssv1651408, nssv1651421, nssv1651446, nssv1651359, nssv1651405, nssv1651461, nssv1651441, nssv1651413, nssv1651346, nssv1651396, nssv1651498, nssv1651488, nssv1651371, nssv1651473, nssv1651353, nssv1651463, nssv1651375, nssv1651388, nssv1651487, nssv1651395, nssv1651357, nssv1651386, nssv1651476, nssv1651392, nssv1651432, nssv1651373, nssv1651390, nssv1651448, nssv1651464, nssv1651478, nssv1651439, nssv1651447, nssv1651337, nssv1651407, nssv1651437, nssv1651483, nssv1651403, nssv1651426, nssv1651368, nssv1651415, nssv1651428, nssv1651366, nssv1651394, nssv1651469, nssv1651356, nssv1651360, nssv1651345, nssv1651433, nssv1651391, nssv1651376, nssv1651474, nssv1651496, nssv1651351, nssv1651358, nssv1651383, nssv1651486, nssv1651449, nssv1651401, nssv1651484, nssv1651438, nssv1651372, nssv1651349, nssv1651378, nssv1651362, nssv1651492, nssv1651385, nssv1651481, nssv1651456, nssv1651389, nssv1651412, nssv1651355, nssv1651365, nssv1651425, nssv1651339, nssv1651495, nssv1651384, nssv1651429, nssv1651453, nssv1651500, nssv1651424, nssv1651482, nssv1651341, nssv1651460, nssv1651419, nssv1651382, nssv1651454, nssv1651485, nssv1651343, nssv1651480, nssv1651342, nssv1651377, nssv1651443, nssv1651467, nssv1651420, nssv1651431, nssv1651374, nssv1651470, nssv1651497, nssv1651400, nssv1651457, nssv1651347, nssv1651445, nssv1651397, nssv1651455, nssv1651398, nssv1651427, nssv1651471, nssv1651494, nssv1651475, nssv1651336, nssv1651380, nssv1651503, nssv1651472, nssv1651423, nssv1651411, nssv1651489, nssv1651350, nssv1651422, nssv1651340, nssv1651442, nssv1651468, nssv1651501, nssv1651502, nssv1651387
SamplesNA18503, NA19012, NA19137, NA10831, NA11881, NA18621, NA18870, NA18964, NA12154, NA18863, NA18861, NA12750, NA18951, NA18871, NA19222, NA18561, NA12801, NA18975, NA18966, NA12752, NA12875, NA18612, NA19209, NA18501, NA19093, NA18500, NA18526, NA18550, NA19003, NA12264, NA19223, NA18545, NA18948, NA18516, NA12707, NA12813, NA19203, NA18521, NA18953, NA18969, NA18972, NA18517, NA18947, NA18573, NA12005, NA18855, NA19144, NA19210, NA07348, NA18507, NA10855, NA18860, NA18994, NA18505, NA19208, NA18506, NA18943, NA19143, NA10863, NA18632, NA12865, NA19140, NA11882, NA19161, NA18912, NA19211, NA18508, NA18967, NA19239, NA12056, NA07034, NA18854, NA18566, NA11994, NA18635, NA18576, NA18622, NA18960, NA10846, NA12864, NA18623, NA12762, NA12873, NA18991, NA12740, NA18592, NA18856, NA12761, NA18956, NA18609, NA18547, NA11831, NA18637, NA11995, NA12234, NA12144, NA12751, NA12006, NA19000, NA12239, NA19153, NA18537, NA18515, NA18633, NA18572, NA19103, NA06985, NA19206, NA18968, NA19005, NA18502, NA19119, NA18558, NA19098, NA12057, NA19139, NA12872, NA18504, NA18978, NA18858, NA18942, NA18540, NA18997, NA19221, NA19131, NA18579, NA18974, NA18945, NA18940, NA19145, NA11832, NA12891, NA10851, NA18582, NA10857, NA12146, NA07055, NA19138, NA10860, NA19101, NA18995, NA06991, NA19193, NA12812, NA19116, NA10830, NA07022, NA12878, NA11992, NA12003, NA19205, NA10838, NA18852, NA11993, NA12248, NA18611, NA11829, NA19130, NA19171, NA12717, NA12874, NA18532, NA19204, NA12760, NA19092, NA19200, NA19007, NA07000, NA18980
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisWe used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.
Platform[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Comments
ReferenceMcCarroll_et_al_2008
Pubmed ID18776908
Accession Number(s)nsv442749
Frequency
Sample Size270
Observed Gain38
Observed Loss131
Observed Complex0
Frequencyn/a


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