Variant Details

Variant: nsv514048

Internal ID

15465746

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:248590684..248632156	hg38	UCSC Ensembl
Inner	chr1:248753985..248795457	hg19	UCSC Ensembl
Inner	chr1:246820608..246862080	hg18	UCSC Ensembl

Cytoband

1q44

Allele length

Assembly	Allele length
hg38	41473
hg19	41473
hg18	41473

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv2857423, nssv2857429, nssv2857585, nssv2857599, nssv2857570, nssv2857449, nssv2857566, nssv2857525, nssv2857483, nssv2857542, nssv2857529, nssv2857521, nssv2857505, nssv2857510, nssv2857484, nssv2857463, nssv2857480, nssv2857581, nssv2857475, nssv2857578, nssv2857467, nssv2857512, nssv2857479, nssv2857561, nssv2857534, nssv2857485, nssv2857574, nssv2857518, nssv2857438, nssv2857594, nssv2857460, nssv2857562, nssv2857532, nssv2857471, nssv2857502, nssv2857580, nssv2857472, nssv2857459, nssv2857557, nssv2857514, nssv2857481, nssv2857522, nssv2857544, nssv2857490, nssv2857546, nssv2857466, nssv2857519, nssv2857435, nssv2857434, nssv2857558, nssv2857528, nssv2857605, nssv2857515, nssv2857488, nssv2857448, nssv2857547, nssv2857524, nssv2857465, nssv2857596, nssv2857445, nssv2857455, nssv2857543, nssv2857553, nssv2857497, nssv2857541, nssv2857600, nssv2857563, nssv2857456, nssv2857458, nssv2857577, nssv2857422, nssv2857508, nssv2857425, nssv2857564, nssv2857540, nssv2857450, nssv2857573, nssv2857507, nssv2857430, nssv2857539, nssv2857419, nssv2857428, nssv2857523, nssv2857441, nssv2857496, nssv2857559, nssv2857526, nssv2857426, nssv2857593, nssv2857482, nssv2857535, nssv2857511, nssv2857432, nssv2857489, nssv2857606, nssv2857437, nssv2857538, nssv2857571, nssv2857498, nssv2857446, nssv2857584, nssv2857550, nssv2857603, nssv2857506, nssv2857452, nssv2857575, nssv2857549, nssv2857500, nssv2857548, nssv2857443, nssv2857442, nssv2857568, nssv2857555, nssv2857582, nssv2857567, nssv2857537, nssv2857474, nssv2857478, nssv2857468, nssv2857462, nssv2857495, nssv2857486, nssv2857470, nssv2857451, nssv2857604, nssv2857477, nssv2857461, nssv2857551, nssv2857601, nssv2857556, nssv2857424, nssv2857587, nssv2857602, nssv2857545, nssv2857530, nssv2857591, nssv2857533, nssv2857501, nssv2857554, nssv2857493, nssv2857420, nssv2857586, nssv2857516, nssv2857513, nssv2857440, nssv2857492, nssv2857447, nssv2857439, nssv2857607, nssv2857588, nssv2857454, nssv2857583, nssv2857565, nssv2857576, nssv2857517, nssv2857504, nssv2857421, nssv2857473, nssv2857608, nssv2857595, nssv2857572, nssv2857520, nssv2857536, nssv2857499, nssv2857531, nssv2857503, nssv2857590, nssv2857457, nssv2857453, nssv2857597, nssv2857509, nssv2857491, nssv2857427, nssv2857592, nssv2857494, nssv2857598, nssv2857527, nssv2857436, nssv2857476, nssv2857444, nssv2857433, nssv2857579, nssv2857469, nssv2857552, nssv2857569, nssv2857560, nssv2857431, nssv2857487, nssv2857464, nssv2857589

Samples

NA19258, NA19141, NA19222, NA21686, NA21317, NA21477, NA21423, NA21383, NA18924, NA12286, NA19249, NA11995, NA11829, NA10845, NA18508, NA12767, NA18855, NA21476, NA19122, NA18935, NA21399, NA18917, NA12045, NA18925, NA12801, NA21386, NA18504, NA21360, NA18510, NA12399, NA07357, NA19107, NA12813, NA18967, NA19127, NA19171, NA18550, NA18519, NA19201, NA19119, NA18923, NA18635, NA18860, NA12891, NA18558, NA19131, NA21401, NA19197, NA11918, NA19138, NA18498, NA21381, NA21365, NA19130, NA18611, NA12761, NA11930, NA11917, NA12282, NA12275, NA21447, NA21382, NA19180, NA19123, NA06984, NA18868, NA19137, NA11994, NA21525, NA10850, NA18966, NA21478, NA19159, NA21601, NA21523, NA19239, NA21400, NA18973, NA18867, NA19200, NA21599, NA21480, NA18605, NA21313, NA19247, NA19120, NA18934, NA19194, NA10836, NA10863, NA19152, NA12878, NA19161, NA18933, NA18859, NA19236, NA18516, NA18871, NA19103, NA18572, NA18948, NA21366, NA12234, NA19208, NA19179, NA19221, NA19202, NA18573, NA12818, NA19142, NA19000, NA07031, NA19150, NA12386, NA18875, NA18518, NA12829, NA19151, NA18499, NA11840, NA18930, NA18856, NA19113, NA12892, NA19154, NA18857, NA12827, NA12145, NA19099, NA12817, NA19101, NA10852, NA19257, NA18555, NA12766, NA06985, NA18523, NA19160, NA19095, NA12778, NA18570, NA19012, NA21302, NA18978, NA18632, NA19206, NA18909, NA11881, NA19115, NA19149, NA18517, NA12775, NA10859, NA19240, NA19174, NA19100, NA19144, NA21390, NA19193, NA18869, NA21388, NA21361, NA18911, NA18594, NA19248, NA21404, NA19223, NA19178, NA12830, NA12329, NA19185, NA21581, NA19102, NA18873, NA21455, NA19116, NA21312, NA18872, NA21389, NA21303, NA19121, NA18852, NA21363, NA19129, NA11892, NA18488, NA07000, NA18522, NA19214, NA18622

Known Genes

OR2T10, OR2T11

Method

Oligo aCGH

Analysis

ADM2 threshold = 5

Platform

Agilent Eichler Human CNP 180K v3.0

Comments

Reference

Campbell_et_al_2011

Pubmed ID

21397061

Accession Number(s)

nsv514048

Frequency

Sample Size	2366
Observed Gain	0
Observed Loss	190
Observed Complex	0
Frequency	n/a