Variant Details

Variant: nsv514749

Internal ID

15466383

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:73543359..73545863	hg38	UCSC Ensembl
Inner	chr14:74010063..74012567	hg19	UCSC Ensembl
Inner	chr14:73079816..73082320	hg18	UCSC Ensembl

Cytoband

14q24.3

Allele length

Assembly	Allele length
hg38	2505
hg19	2505
hg18	2505

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

nssv2804260, nssv2806413, nssv2800152, nssv2802226, nssv2801354, nssv2806807, nssv2801298, nssv2799787, nssv2799575, nssv2807933, nssv2803244, nssv2807555, nssv2800347, nssv2799125, nssv2804416, nssv2802119, nssv2801768, nssv2805381, nssv2805024, nssv2803291, nssv2801191, nssv2807427, nssv2802157, nssv2800679, nssv2805121, nssv2803317, nssv2801088, nssv2807057, nssv2801866, nssv2807139, nssv2806325, nssv2799013, nssv2805698, nssv2806199, nssv2802665, nssv2807237, nssv2801914, nssv2800610, nssv2798977, nssv2807641, nssv2806794, nssv2807887, nssv2805186, nssv2808281, nssv2800214, nssv2801036, nssv2805018, nssv2804497, nssv2800683, nssv2801022, nssv2802953, nssv2800109, nssv2800581, nssv2800458, nssv2804992, nssv2808010, nssv2806027, nssv2798928, nssv2805593, nssv2801865, nssv2806282, nssv2804369, nssv2804872, nssv2807795, nssv2806576, nssv2800794, nssv2801829, nssv2805285, nssv2804777, nssv2803171, nssv2804530, nssv2799376, nssv2808487, nssv2803492, nssv2799935, nssv2806136, nssv2801980, nssv2799137, nssv2800228, nssv2803318, nssv2803788, nssv2802674, nssv2798942, nssv2807412, nssv2805215, nssv2802195, nssv2801379, nssv2807003, nssv2800644, nssv2807690, nssv2801438, nssv2804108, nssv2803198, nssv2800080, nssv2808148, nssv2805697, nssv2799639, nssv2806953, nssv2806704, nssv2802756, nssv2803695, nssv2799407, nssv2805342, nssv2801696, nssv2807218, nssv2803107, nssv2804659, nssv2803308, nssv2801135, nssv2798984, nssv2808170, nssv2806310, nssv2802553, nssv2798768, nssv2805548, nssv2802249, nssv2804876, nssv2805239, nssv2801628, nssv2807358, nssv2801473, nssv2804648, nssv2805911, nssv2802295, nssv2801627, nssv2801136, nssv2807732, nssv2806744, nssv2806932, nssv2807495, nssv2807483, nssv2799210, nssv2805413, nssv2801697, nssv2799331, nssv2802467, nssv2807289, nssv2802436, nssv2803571, nssv2802089, nssv2805654, nssv2803960, nssv2803183, nssv2801616, nssv2808086, nssv2802390, nssv2807764, nssv2806962, nssv2805949, nssv2802262, nssv2801871, nssv2801169, nssv2798696, nssv2803498, nssv2802824, nssv2798856, nssv2806121, nssv2802028, nssv2804127, nssv2802120, nssv2807780, nssv2805970, nssv2806808, nssv2804179, nssv2803478, nssv2805169, nssv2799651, nssv2803362, nssv2799727, nssv2798733, nssv2799740, nssv2803402, nssv2808290, nssv2808140, nssv2806717, nssv2805501, nssv2802793, nssv2798656, nssv2803961, nssv2806326, nssv2803399, nssv2799886, nssv2807717, nssv2803106, nssv2800950, nssv2800513, nssv2798506, nssv2804924, nssv2807426, nssv2801477, nssv2804889, nssv2799432, nssv2808484, nssv2803800, nssv2803597, nssv2799565, nssv2806013, nssv2803752, nssv2802830, nssv2807036, nssv2799063, nssv2805390, nssv2800036, nssv2803671, nssv2804101, nssv2802811, nssv2801128, nssv2800943, nssv2804326, nssv2800160, nssv2804741, nssv2806383, nssv2803521, nssv2801671, nssv2808309, nssv2801445, nssv2801816, nssv2807494, nssv2805450, nssv2801546, nssv2806483, nssv2804844, nssv2799465, nssv2800319, nssv2799588, nssv2806762, nssv2808085, nssv2803738, nssv2800530

Samples

NA12383, NA12717, NA19222, NA11830, NA21477, NA12842, NA18621, NA18947, NA11995, NA18862, NA18592, NA18508, NA12814, NA10851, NA12273, NA18524, NA12767, NA12414, NA18980, NA18507, NA12843, NA11920, NA21399, NA12344, NA18999, NA18603, NA12045, NA12751, NA21489, NA12004, NA21717, NA12801, NA21386, NA18504, NA12340, NA12146, NA18959, NA21475, NA21301, NA12832, NA18633, NA21522, NA12399, NA07357, NA18969, NA12341, NA18967, NA18563, NA19005, NA18550, NA10835, NA21359, NA18995, NA12336, NA19191, NA12802, NA19119, NA18635, NA18558, NA12348, NA18960, NA18942, NA21493, NA21365, NA18964, NA06993, NA19130, NA18949, NA18611, NA11930, NA12275, NA21447, NA19199, NA18970, NA07019, NA06984, NA21525, NA21453, NA10850, NA18966, NA12815, NA18990, NA21601, NA21523, NA10839, NA21442, NA18975, NA12375, NA18973, NA21494, NA19007, NA11831, NA10847, NA12777, NA21480, NA21307, NA18605, NA12335, NA21313, NA19210, NA12489, NA19120, NA07022, NA19194, NA10836, NA12343, NA19175, NA10863, NA19152, NA12878, NA12872, NA18933, NA18956, NA19184, NA19205, NA18991, NA19236, NA18516, NA21439, NA12877, NA18579, NA12376, NA18871, NA18572, NA18948, NA18503, NA18981, NA12234, NA19202, NA18907, NA18566, NA21441, NA12818, NA11919, NA19177, NA19118, NA19000, NA12386, NA18875, NA18518, NA18499, NA11840, NA12249, NA12056, NA19113, NA12892, NA19154, NA06989, NA12827, NA10852, NA18555, NA12144, NA19132, NA19095, NA12778, NA10856, NA18570, NA21309, NA18593, NA12546, NA18945, NA21316, NA18974, NA18608, NA18953, NA19003, NA18978, NA06995, NA11882, NA19183, NA18542, NA06991, NA12716, NA11881, NA18961, NA18952, NA12864, NA18863, NA18564, NA10859, NA19240, NA19174, NA18992, NA21718, NA12874, NA07348, NA12763, NA21361, NA19182, NA18594, NA18484, NA12740, NA06994, NA18971, NA19178, NA10843, NA12749, NA10860, NA18636, NA12830, NA12329, NA18609, NA18506, NA18873, NA12875, NA11843, NA21455, NA19116, NA18552, NA21490, NA07056, NA18488, NA19148, NA18968, NA18624, NA18511, NA07000, NA18522, NA12154, NA18612, NA10837, NA19214, NA18622, NA18487, NA18562, NA18965, NA18577, NA18620, NA18997

Known Genes

ACOT1, HEATR4

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)

nsv514749

Frequency

Sample Size	2366
Observed Gain	8
Observed Loss	221
Observed Complex	0
Frequency	n/a