Variant Details

Variant: nsv442749

Internal ID

15154782

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:46323701..46674934	hg38	UCSC Ensembl
Inner	chr17:44401067..44752300	hg19	UCSC Ensembl
Inner	chr17:41756832..42107479	hg18	UCSC Ensembl
Inner	chr17:41756832..42107479	hg17	UCSC Ensembl

Cytoband

17q21.31

Allele length

Assembly	Allele length
hg38	351234
hg19	351234
hg18	350648
hg17	350648

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1651368, nssv1651480, nssv1651342, nssv1651385, nssv1651460, nssv1651352, nssv1651503, nssv1651454, nssv1651461, nssv1651435, nssv1651470, nssv1651467, nssv1651371, nssv1651485, nssv1651475, nssv1651372, nssv1651364, nssv1651504, nssv1651397, nssv1651377, nssv1651366, nssv1651463, nssv1651382, nssv1651388, nssv1651376, nssv1651393, nssv1651380, nssv1651343, nssv1651347, nssv1651336, nssv1651404, nssv1651367, nssv1651483, nssv1651412, nssv1651476, nssv1651405, nssv1651487, nssv1651427, nssv1651428, nssv1651425, nssv1651450, nssv1651494, nssv1651472, nssv1651497, nssv1651432, nssv1651481, nssv1651458, nssv1651394, nssv1651381, nssv1651484, nssv1651465, nssv1651444, nssv1651462, nssv1651339, nssv1651369, nssv1651357, nssv1651344, nssv1651426, nssv1651451, nssv1651491, nssv1651391, nssv1651449, nssv1651488, nssv1651410, nssv1651477, nssv1651441, nssv1651424, nssv1651459, nssv1651496, nssv1651445, nssv1651464, nssv1651502, nssv1651414, nssv1651442, nssv1651362, nssv1651440, nssv1651401, nssv1651457, nssv1651423, nssv1651479, nssv1651452, nssv1651413, nssv1651415, nssv1651455, nssv1651443, nssv1651403, nssv1651390, nssv1651438, nssv1651379, nssv1651418, nssv1651408, nssv1651341, nssv1651384, nssv1651498, nssv1651340, nssv1651361, nssv1651402, nssv1651486, nssv1651447, nssv1651430, nssv1651500, nssv1651433, nssv1651446, nssv1651387, nssv1651416, nssv1651501, nssv1651338, nssv1651409, nssv1651400, nssv1651453, nssv1651421, nssv1651348, nssv1651471, nssv1651419, nssv1651355, nssv1651374, nssv1651431, nssv1651351, nssv1651346, nssv1651395, nssv1651383, nssv1651373, nssv1651378, nssv1651360, nssv1651456, nssv1651492, nssv1651411, nssv1651363, nssv1651439, nssv1651437, nssv1651478, nssv1651398, nssv1651420, nssv1651350, nssv1651474, nssv1651448, nssv1651389, nssv1651495, nssv1651337, nssv1651473, nssv1651353, nssv1651469, nssv1651375, nssv1651359, nssv1651345, nssv1651466, nssv1651429, nssv1651406, nssv1651493, nssv1651436, nssv1651370, nssv1651499, nssv1651489, nssv1651468, nssv1651422, nssv1651386, nssv1651482, nssv1651358, nssv1651349, nssv1651365, nssv1651392, nssv1651396, nssv1651490, nssv1651434, nssv1651407, nssv1651417, nssv1651399, nssv1651356, nssv1651354

Samples

NA18502, NA12717, NA19222, NA19203, NA18621, NA18947, NA11995, NA11829, NA19204, NA18861, NA18592, NA18508, NA10851, NA18980, NA18855, NA18561, NA18507, NA19145, NA19092, NA12751, NA18545, NA12801, NA18504, NA12248, NA12146, NA12865, NA10857, NA19098, NA18870, NA18526, NA18633, NA12750, NA18969, NA12813, NA18967, NA19171, NA19005, NA18940, NA18550, NA12812, NA10846, NA18995, NA19119, NA18635, NA18860, NA12891, NA18558, NA18547, NA19131, NA18960, NA18942, NA11992, NA18582, NA12762, NA19138, NA18964, NA19130, NA18611, NA12761, NA12005, NA19137, NA11994, NA18966, NA10855, NA19239, NA19209, NA18975, NA19200, NA11993, NA19007, NA11831, NA18951, NA19210, NA12760, NA12752, NA07022, NA12003, NA10863, NA10831, NA12878, NA12872, NA19161, NA18956, NA18515, NA19205, NA18991, NA18516, NA18637, NA18579, NA18871, NA19103, NA18572, NA18948, NA18503, NA10838, NA12234, NA19208, NA19221, NA18537, NA18566, NA18573, NA19000, NA10830, NA18856, NA12056, NA18912, NA18532, NA12239, NA12264, NA12707, NA19101, NA12144, NA06985, NA18858, NA18945, NA19012, NA18974, NA18576, NA18953, NA19003, NA18978, NA18632, NA11882, NA19206, NA06991, NA11881, NA18517, NA12864, NA18863, NA18540, NA12057, NA19140, NA12873, NA19144, NA18943, NA19193, NA12874, NA07348, NA07055, NA19143, NA18501, NA12740, NA19223, NA19211, NA18994, NA19093, NA10860, NA18521, NA18500, NA18609, NA18506, NA12875, NA18854, NA19116, NA18972, NA18852, NA18505, NA18968, NA19139, NA12006, NA18623, NA07000, NA12154, NA07034, NA18612, NA18622, NA19153, NA11832, NA18997

Known Genes

ARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1

Method

SNP array

Analysis

We 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

Reference

McCarroll_et_al_2008

Pubmed ID

18776908

Accession Number(s)

nsv442749

Frequency

Sample Size	270
Observed Gain	38
Observed Loss	131
Observed Complex	0
Frequency	n/a