A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv514749

Internal ID15466383
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73543359..73545863hg38UCSC Ensembl
Innerchr14:74010063..74012567hg19UCSC Ensembl
Innerchr14:73079816..73082320hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2803492, nssv2801088, nssv2804741, nssv2801036, nssv2801865, nssv2802249, nssv2808487, nssv2800610, nssv2803478, nssv2807732, nssv2800794, nssv2801697, nssv2799013, nssv2799639, nssv2800347, nssv2803800, nssv2799465, nssv2800214, nssv2805285, nssv2800950, nssv2802028, nssv2805698, nssv2804497, nssv2806953, nssv2803318, nssv2806325, nssv2805911, nssv2801914, nssv2803106, nssv2802120, nssv2805413, nssv2801169, nssv2798768, nssv2807358, nssv2803308, nssv2802756, nssv2806199, nssv2803597, nssv2805697, nssv2801135, nssv2805450, nssv2800513, nssv2801136, nssv2805949, nssv2800644, nssv2808148, nssv2804108, nssv2808290, nssv2799137, nssv2805501, nssv2802793, nssv2802665, nssv2804369, nssv2805239, nssv2805548, nssv2799935, nssv2804179, nssv2804872, nssv2807795, nssv2802553, nssv2801445, nssv2801477, nssv2804326, nssv2799886, nssv2808309, nssv2801128, nssv2804530, nssv2802953, nssv2799376, nssv2800683, nssv2807412, nssv2803171, nssv2806027, nssv2801438, nssv2807555, nssv2805381, nssv2806413, nssv2800679, nssv2801829, nssv2805018, nssv2807427, nssv2801379, nssv2803291, nssv2799565, nssv2800458, nssv2801191, nssv2805215, nssv2807003, nssv2807237, nssv2806932, nssv2798977, nssv2802467, nssv2808085, nssv2804924, nssv2799331, nssv2803671, nssv2806794, nssv2808170, nssv2802824, nssv2803752, nssv2807933, nssv2800530, nssv2798733, nssv2801980, nssv2807139, nssv2798942, nssv2806121, nssv2807887, nssv2803498, nssv2804844, nssv2801354, nssv2800228, nssv2801616, nssv2801628, nssv2805121, nssv2808010, nssv2800581, nssv2804876, nssv2806744, nssv2807218, nssv2800109, nssv2801871, nssv2806310, nssv2802390, nssv2803402, nssv2802830, nssv2806576, nssv2807057, nssv2802089, nssv2802226, nssv2799063, nssv2799787, nssv2804101, nssv2804416, nssv2801768, nssv2807495, nssv2799432, nssv2802811, nssv2803362, nssv2801298, nssv2806483, nssv2803317, nssv2805970, nssv2798696, nssv2805024, nssv2807764, nssv2799651, nssv2803198, nssv2800080, nssv2801022, nssv2807494, nssv2808086, nssv2802119, nssv2799727, nssv2803107, nssv2802195, nssv2798506, nssv2803960, nssv2807717, nssv2802674, nssv2805186, nssv2801473, nssv2804992, nssv2803521, nssv2807483, nssv2805342, nssv2807641, nssv2804648, nssv2803571, nssv2803183, nssv2803244, nssv2799125, nssv2806807, nssv2805390, nssv2801696, nssv2799407, nssv2799740, nssv2802157, nssv2806383, nssv2806717, nssv2805654, nssv2806136, nssv2798656, nssv2806282, nssv2801866, nssv2806962, nssv2798856, nssv2805593, nssv2807780, nssv2807426, nssv2803695, nssv2808281, nssv2804889, nssv2807690, nssv2803961, nssv2802436, nssv2807289, nssv2801816, nssv2803399, nssv2804777, nssv2799575, nssv2801546, nssv2800152, nssv2800319, nssv2808484, nssv2800160, nssv2806808, nssv2799588, nssv2804260, nssv2805169, nssv2806326, nssv2798928, nssv2802262, nssv2807036, nssv2806704, nssv2799210, nssv2801627, nssv2804127, nssv2808140, nssv2798984, nssv2803788, nssv2804659, nssv2806013, nssv2803738, nssv2801671, nssv2806762, nssv2802295, nssv2800036, nssv2800943
SamplesNA10859, NA18503, NA12767, NA19183, NA11881, NA12827, NA18621, NA18964, NA12154, NA12818, NA18863, NA12489, NA19152, NA19194, NA12249, NA18605, NA10843, NA19214, NA21441, NA21490, NA11930, NA12344, NA18594, NA18871, NA12802, NA19222, NA18933, NA12801, NA18952, NA18975, NA07056, NA18966, NA19174, NA12875, NA11920, NA18612, NA21447, NA19120, NA19178, NA21307, NA10839, NA18550, NA18570, NA19003, NA19191, NA18511, NA06989, NA12815, NA10847, NA12340, NA18603, NA21718, NA18948, NA18516, NA06993, NA18953, NA18969, NA18947, NA18608, NA18542, NA19184, NA07019, NA21386, NA18484, NA19210, NA07348, NA18507, NA10837, NA18524, NA21361, NA18965, NA21489, NA18488, NA19236, NA12341, NA12376, NA18506, NA18862, NA18873, NA18949, NA10863, NA12414, NA11882, NA11919, NA12763, NA21309, NA12843, NA18624, NA18508, NA18967, NA19148, NA12056, NA18992, NA11840, NA21493, NA12004, NA12336, NA19199, NA12383, NA18566, NA18635, NA18622, NA18960, NA12864, NA18563, NA07357, NA18990, NA21301, NA12343, NA18991, NA12814, NA18636, NA12740, NA18592, NA12273, NA21359, NA18956, NA10852, NA21453, NA18959, NA18609, NA21477, NA11843, NA12329, NA19182, NA21523, NA11831, NA21522, NA18973, NA11995, NA18593, NA12830, NA12777, NA12234, NA21399, NA12144, NA18970, NA12751, NA19000, NA21442, NA12716, NA18518, NA18620, NA21525, NA12892, NA18633, NA18572, NA21316, NA12778, NA21717, NA12348, NA12877, NA18968, NA18522, NA12275, NA18875, NA19005, NA19119, NA21455, NA18558, NA19154, NA10850, NA10856, NA12872, NA18504, NA19175, NA18978, NA18487, NA18564, NA18942, NA18961, NA18997, NA10836, NA21475, NA18562, NA18579, NA18974, NA18945, NA21313, NA10851, NA18999, NA12146, NA18552, NA10860, NA18907, NA21439, NA12749, NA18995, NA06991, NA06984, NA21601, NA12375, NA12386, NA06995, NA19116, NA10835, NA18971, NA19132, NA21480, NA18577, NA07022, NA12878, NA11830, NA19205, NA12399, NA12546, NA12842, NA18499, NA19118, NA12045, NA18611, NA19095, NA19130, NA19240, NA12717, NA12874, NA19113, NA18981, NA19177, NA06994, NA12832, NA12335, NA18555, NA19007, NA21365, NA19202, NA07000, NA18980, NA21494
Known GenesACOT1, HEATR4
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Pubmed ID21397061
Accession Number(s)nsv514749
Sample Size2366
Observed Gain8
Observed Loss221
Observed Complex0

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