A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv1040706

Internal ID

19129925

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:18976182..19955201	hg38	UCSC Ensembl
Inner	chr14:19562127..20423360	hg19	UCSC Ensembl
Inner	chr14:18632127..19493200	hg18	UCSC Ensembl

Cytoband

14q11.1

Allele length

Assembly	Allele length
hg38	979020
hg19	861234
hg18	861074

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv3529498, nssv3529546, nssv3714302, nssv3529439, nssv3529537, nssv3529466, nssv3529550, nssv3529553, nssv3529491, nssv3711023, nssv3710965, nssv3529554, nssv3529562, nssv3711027, nssv3529518, nssv3711021, nssv3710955, nssv3529560, nssv3529555, nssv3711013, nssv3529427, nssv3710989, nssv3529423, nssv3529541, nssv3529523, nssv3529504, nssv3710977, nssv3529533, nssv3711024, nssv3529570, nssv3711026, nssv3529493, nssv3529512, nssv3529444, nssv3710999, nssv3529556, nssv3710986, nssv3529425, nssv3529483, nssv3528269, nssv3529455, nssv3711004, nssv3529571, nssv3710971, nssv3529477, nssv3529521, nssv3529539, nssv3529440, nssv3529495, nssv3711005, nssv3710976, nssv3529543, nssv3710985, nssv3710994, nssv3711020, nssv3529395, nssv3529558, nssv3529577, nssv3529500, nssv3529563, nssv3529410, nssv3529564, nssv3528267, nssv3529511, nssv3710974, nssv3710960, nssv3529392, nssv3529456, nssv3529561, nssv3529506, nssv3529432, nssv3710991, nssv3529407, nssv3528278, nssv3528266, nssv3529567, nssv3710997, nssv3529481, nssv3529393, nssv3711000, nssv3710957, nssv3529389, nssv3529526, nssv3529572, nssv3529559, nssv3529524, nssv3529509, nssv3711028, nssv3529547, nssv3529411, nssv3710995, nssv3529452, nssv3529447, nssv3529528, nssv3529476, nssv3529401, nssv3529413, nssv3529532, nssv3529454, nssv3529406, nssv3529566, nssv3714301, nssv3529490, nssv3710956, nssv3714300, nssv3528275, nssv3529430, nssv3711010, nssv3529391, nssv3529457, nssv3529428, nssv3528268, nssv3529451, nssv3529400, nssv3528276, nssv3710970, nssv3529405, nssv3528270, nssv3711022, nssv3710980, nssv3710987, nssv3529569, nssv3529534, nssv3529462, nssv3529418, nssv3529415, nssv3710961, nssv3711018, nssv3529542, nssv3711001, nssv3529530, nssv3529443, nssv3528273, nssv3529529, nssv3529416, nssv3529568, nssv3710992, nssv3714304, nssv3529471, nssv3529505, nssv3710973, nssv3711025, nssv3529497, nssv3529429, nssv3529422, nssv3529515, nssv3529436, nssv3711016, nssv3710996, nssv3529459, nssv3529574, nssv3711002, nssv3529531, nssv3529448, nssv3529480, nssv3529482, nssv3529467, nssv3529408, nssv3714303, nssv3529522, nssv3529431, nssv3710968, nssv3529527, nssv3710982, nssv3711007, nssv3529484, nssv3528277, nssv3710993, nssv3529426, nssv3710978, nssv3529507, nssv3529468, nssv3711006, nssv3529441, nssv3529565, nssv3529492, nssv3528279, nssv3711003, nssv3529442, nssv3710983, nssv3529499, nssv3710966, nssv3529450, nssv3529390, nssv3710981, nssv3714299, nssv3529403, nssv3710972, nssv3529469, nssv3529419, nssv3528272, nssv3529494, nssv3529449, nssv3529445, nssv3710988, nssv3529501, nssv3529470, nssv3529409, nssv3711015, nssv3529402, nssv3529465, nssv3529488, nssv3529453, nssv3710998, nssv3710969, nssv3529513, nssv3529578, nssv3529535, nssv3528274, nssv3529503, nssv3529464, nssv3529463, nssv3710963, nssv3529525, nssv3710958, nssv3529576, nssv3711017, nssv3529438, nssv3710984, nssv3528271, nssv3529536, nssv3529473, nssv3529446, nssv3711011, nssv3529545, nssv3710959, nssv3529472, nssv3710990, nssv3711012, nssv3711009, nssv3529575, nssv3529496, nssv3529412, nssv3710964, nssv3529552, nssv3529388, nssv3529460, nssv3529458, nssv3711008, nssv3529538, nssv3529516, nssv3529474, nssv3529517, nssv3529478, nssv3529479, nssv3529487, nssv3529420, nssv3529421, nssv3529461, nssv3529424, nssv3529404, nssv3529519, nssv3529502, nssv3529514, nssv3529486, nssv3529548, nssv3711014, nssv3529557, nssv3529573, nssv3529551, nssv3529508, nssv3529510, nssv3529394, nssv3529398, nssv3529399, nssv3710967, nssv3529414, nssv3529475, nssv3529434, nssv3529397, nssv3528280, nssv3529433, nssv3529485, nssv3528265, nssv3529489, nssv3529396, nssv3710975, nssv3710979, nssv3529540, nssv3710962, nssv3529437, nssv3529520, nssv3711019, nssv3710954, nssv3529549, nssv3529435, nssv3529544, nssv3529417

Samples

Known Genes

BMS1P17, BMS1P18, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEG, POTEM

Method

SNP array

Analysis

Affymetrix SNP array copy number analysis

Platform

Affymetrix SNP Array 6.0

Comments

Reference

Coe_et_al_2014

Pubmed ID

Accession Number(s)

Frequency

Sample Size	11257
Observed Gain	288
Observed Loss	0
Observed Complex	0
Frequency	n/a