Variant Details

Variant: nsv442544

Internal ID

15501263

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:42697878..42727685	hg38	UCSC Ensembl
Inner	chr9:44243434..44273241	hg19	UCSC Ensembl
Inner	chr9:44183430..44213237	hg18	UCSC Ensembl
Inner	chr9:43394507..43424314	hg17	UCSC Ensembl

Cytoband

9p11.2

Allele length

Assembly	Allele length
hg38	29808
hg19	29808
hg18	29808
hg17	29808

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv1639484, nssv1639475, nssv1639328, nssv1639439, nssv1639448, nssv1639402, nssv1639371, nssv1639411, nssv1639463, nssv1639444, nssv1639413, nssv1639395, nssv1639477, nssv1639440, nssv1639368, nssv1639480, nssv1639414, nssv1639367, nssv1639393, nssv1639326, nssv1639415, nssv1639318, nssv1639479, nssv1639335, nssv1639356, nssv1639454, nssv1639410, nssv1639341, nssv1639425, nssv1639409, nssv1639351, nssv1639360, nssv1639362, nssv1639464, nssv1639404, nssv1639462, nssv1639437, nssv1639352, nssv1639353, nssv1639355, nssv1639418, nssv1639374, nssv1639445, nssv1639331, nssv1639469, nssv1639327, nssv1639452, nssv1639436, nssv1639458, nssv1639322, nssv1639329, nssv1639378, nssv1639361, nssv1639386, nssv1639340, nssv1639423, nssv1639419, nssv1639366, nssv1639426, nssv1639467, nssv1639483, nssv1639457, nssv1639332, nssv1639476, nssv1639438, nssv1639344, nssv1639379, nssv1639417, nssv1639338, nssv1639336, nssv1639319, nssv1639407, nssv1639446, nssv1639381, nssv1639478, nssv1639315, nssv1639443, nssv1639394, nssv1639449, nssv1639324, nssv1639456, nssv1639384, nssv1639346, nssv1639485, nssv1639435, nssv1639357, nssv1639459, nssv1639370, nssv1639400, nssv1639472, nssv1639424, nssv1639442, nssv1639365, nssv1639320, nssv1639343, nssv1639465, nssv1639470, nssv1639364, nssv1639354, nssv1639451, nssv1639406, nssv1639392, nssv1639348, nssv1639385, nssv1639482, nssv1639372, nssv1639369, nssv1639434, nssv1639337, nssv1639330, nssv1639345, nssv1639347, nssv1639487, nssv1639453, nssv1639373, nssv1639421, nssv1639471, nssv1639359, nssv1639375, nssv1639403, nssv1639488, nssv1639387, nssv1639349, nssv1639481, nssv1639314, nssv1639390, nssv1639432, nssv1639401, nssv1639396, nssv1639382, nssv1639473, nssv1639422, nssv1639376, nssv1639377, nssv1639474, nssv1639412, nssv1639420, nssv1639350, nssv1639388, nssv1639358, nssv1639397, nssv1639380, nssv1639383, nssv1639441, nssv1639433, nssv1639468, nssv1639391, nssv1639408, nssv1639389, nssv1639447, nssv1639427, nssv1639399, nssv1639334, nssv1639321, nssv1639460, nssv1639325, nssv1639339, nssv1639428, nssv1639317, nssv1639323, nssv1639363, nssv1639431, nssv1639416, nssv1639398, nssv1639455, nssv1639342, nssv1639486, nssv1639466, nssv1639461, nssv1639450, nssv1639430, nssv1639333, nssv1639429, nssv1639316, nssv1639405

Samples

NA18502, NA19141, NA19222, NA19203, NA18621, NA18947, NA11995, NA11829, NA19204, NA18862, NA18861, NA18524, NA18855, NA18561, NA18507, NA19145, NA18999, NA18603, NA19092, NA18545, NA18504, NA12146, NA18959, NA12865, NA10857, NA19098, NA18870, NA18526, NA18633, NA18969, NA18967, NA18563, NA19192, NA19171, NA19005, NA18944, NA18940, NA12812, NA19201, NA18995, NA19119, NA18635, NA18860, NA18558, NA18547, NA19131, NA18960, NA18942, NA11992, NA07048, NA18571, NA19138, NA19130, NA18611, NA12761, NA18970, NA19137, NA19238, NA12044, NA11994, NA19207, NA19172, NA19128, NA12815, NA19159, NA10855, NA19239, NA19209, NA10839, NA18975, NA18973, NA19200, NA11993, NA19007, NA11831, NA10847, NA18951, NA18605, NA12752, NA19194, NA19152, NA12878, NA12872, NA19161, NA18956, NA18859, NA18515, NA18991, NA18529, NA18516, NA18637, NA18579, NA18871, NA19103, NA18976, NA18948, NA18503, NA18981, NA19221, NA19202, NA18537, NA18566, NA18573, NA19142, NA19000, NA11840, NA12056, NA18912, NA12892, NA19154, NA18857, NA18532, NA18853, NA19099, NA19101, NA18555, NA18523, NA19160, NA19132, NA18570, NA18858, NA18593, NA18945, NA18974, NA18576, NA19094, NA19003, NA18978, NA18914, NA18632, NA19206, NA18542, NA18952, NA18517, NA12864, NA18564, NA19140, NA18913, NA19240, NA19100, NA19144, NA10861, NA19193, NA12874, NA19143, NA18501, NA18971, NA19223, NA19173, NA18987, NA19211, NA18994, NA19093, NA10860, NA18636, NA18500, NA18609, NA18506, NA19102, NA18854, NA18972, NA18872, NA18505, NA18968, NA18624, NA19139, NA12006, NA18623, NA07034, NA18622, NA19153, NA18562, NA18965, NA11832, NA18620

Known Genes

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)

nsv442544

Frequency

Sample Size	270
Observed Gain	175
Observed Loss	0
Observed Complex	0
Frequency	n/a