A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515025



Internal ID15466659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71032857..71062913hg38UCSC Ensembl
Innerchr5:70328684..70358740hg19UCSC Ensembl
Innerchr5:70364440..70394496hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3830057
hg1930057
hg1830057
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2926713, nssv2926649, nssv2926715, nssv2926528, nssv2926678, nssv2926694, nssv2926619, nssv2926601, nssv2926536, nssv2926502, nssv2926569, nssv2926595, nssv2924364, nssv2926648, nssv2926549, nssv2926598, nssv2926499, nssv2924358, nssv2924372, nssv2926617, nssv2924369, nssv2926531, nssv2926552, nssv2926530, nssv2924377, nssv2926483, nssv2926517, nssv2926616, nssv2926700, nssv2926507, nssv2926561, nssv2926642, nssv2926501, nssv2926594, nssv2926641, nssv2926577, nssv2926504, nssv2926655, nssv2926506, nssv2926661, nssv2926677, nssv2924392, nssv2926548, nssv2926623, nssv2926633, nssv2926689, nssv2926618, nssv2924362, nssv2926580, nssv2926660, nssv2926690, nssv2924373, nssv2926644, nssv2926513, nssv2926608, nssv2926503, nssv2926657, nssv2926622, nssv2926708, nssv2926494, nssv2926596, nssv2926693, nssv2926553, nssv2926493, nssv2924357, nssv2926510, nssv2926576, nssv2926560, nssv2926495, nssv2926538, nssv2926709, nssv2926539, nssv2926629, nssv2924361, nssv2926545, nssv2926658, nssv2926665, nssv2926612, nssv2924381, nssv2926591, nssv2924394, nssv2926516, nssv2924383, nssv2926488, nssv2926511, nssv2926508, nssv2926573, nssv2926597, nssv2926587, nssv2926676, nssv2926679, nssv2924382, nssv2926717, nssv2924378, nssv2926558, nssv2926699, nssv2924397, nssv2926490, nssv2926647, nssv2926711, nssv2926634, nssv2926688, nssv2926567, nssv2926541, nssv2926537, nssv2926477, nssv2926626, nssv2926692, nssv2926529, nssv2924370, nssv2924388, nssv2926544, nssv2926572, nssv2926684, nssv2926666, nssv2926696, nssv2926590, nssv2924367, nssv2926632, nssv2926687, nssv2926701, nssv2926481, nssv2926522, nssv2926643, nssv2926637, nssv2926527, nssv2926602, nssv2926614, nssv2926639, nssv2926535, nssv2926680, nssv2926584, nssv2926588, nssv2926674, nssv2926484, nssv2926479, nssv2926546, nssv2926667, nssv2926705, nssv2926540, nssv2926518, nssv2926523, nssv2926636, nssv2926646, nssv2926497, nssv2926716, nssv2926635, nssv2926555, nssv2926532, nssv2926575, nssv2926485, nssv2924368, nssv2924390, nssv2926557, nssv2926702, nssv2924374, nssv2926547, nssv2926550, nssv2924384, nssv2926603, nssv2926534, nssv2926519, nssv2926564, nssv2926578, nssv2926720, nssv2924376, nssv2926624, nssv2926478, nssv2924359, nssv2926579, nssv2926710, nssv2926663, nssv2926593, nssv2924360, nssv2926671, nssv2926695, nssv2926512, nssv2924386, nssv2926566, nssv2926613, nssv2926562, nssv2926509, nssv2926586, nssv2926668, nssv2926514, nssv2926551, nssv2926718, nssv2926675, nssv2926604, nssv2926631, nssv2924365, nssv2926685, nssv2926609, nssv2926621, nssv2926673, nssv2926482, nssv2924371, nssv2924391, nssv2926505, nssv2926556, nssv2924385, nssv2926543, nssv2926600, nssv2926492, nssv2926585, nssv2926610, nssv2926691, nssv2926714, nssv2924393, nssv2926489, nssv2926480, nssv2926521, nssv2926651, nssv2926719, nssv2926659, nssv2926574, nssv2924380, nssv2926583, nssv2926565, nssv2926627, nssv2924387, nssv2926515, nssv2926698, nssv2926697, nssv2926652, nssv2926491, nssv2926533, nssv2926656, nssv2926670, nssv2924398, nssv2926605, nssv2926500, nssv2926599, nssv2926645, nssv2926526, nssv2926606, nssv2926640, nssv2926554, nssv2926706, nssv2926638, nssv2926703, nssv2926525, nssv2926683, nssv2924379, nssv2926654, nssv2926653, nssv2926571, nssv2926669, nssv2926498, nssv2926682, nssv2924375, nssv2924396, nssv2926664, nssv2926570, nssv2926589, nssv2926607, nssv2926625, nssv2926672, nssv2924395, nssv2926496, nssv2926611, nssv2926620, nssv2926524, nssv2926686, nssv2926559, nssv2926581, nssv2924366, nssv2926582, nssv2926662, nssv2926615, nssv2926487, nssv2926628, nssv2926520, nssv2926704, nssv2926712, nssv2926681, nssv2924363, nssv2926542, nssv2926707, nssv2926563, nssv2926592, nssv2926486, nssv2926650, nssv2924389, nssv2926630, nssv2926568
SamplesNA18503, NA12767, NA19146, NA11881, NA18870, NA19248, NA12818, NA12489, NA21438, NA07347, NA19214, NA21441, NA18509, NA21390, NA19192, NA07349, NA18523, NA11920, NA21599, NA18869, NA21447, NA18501, NA19093, NA19178, NA18500, NA10839, NA11918, NA21404, NA19191, NA12264, NA18511, NA18859, NA06989, NA10847, NA12340, NA18545, NA21487, NA21718, NA18948, NA18516, NA12813, NA19186, NA18953, NA18972, NA12828, NA18517, NA19109, NA19150, NA18608, NA21403, NA19184, NA07019, NA12005, NA18489, NA21386, NA18855, NA18484, NA19210, NA07348, NA18507, NA10855, NA18860, NA21425, NA12776, NA21454, NA21312, NA18524, NA21361, NA18965, NA21489, NA18488, NA19180, NA12766, NA12287, NA12376, NA19151, NA19208, NA18862, NA18873, NA18868, NA19143, NA10863, NA12414, NA19140, NA11882, NA19161, NA12763, NA21309, NA18934, NA18508, NA18967, NA19148, NA19239, NA18992, NA21686, NA12282, NA12753, NA21493, NA12004, NA18854, NA19199, NA12383, NA11994, NA18960, NA19197, NA19107, NA18990, NA18930, NA18636, NA12740, NA18856, NA21359, NA12761, NA10852, NA21453, NA21477, NA18497, NA11843, NA19182, NA21523, NA11831, NA18485, NA19256, NA21522, NA11894, NA12400, NA18637, NA11995, NA18916, NA19181, NA12830, NA12777, NA12234, NA12751, NA19190, NA19247, NA19153, NA07346, NA12716, NA19129, NA19172, NA19189, NA07014, NA12892, NA19094, NA19103, NA21316, NA06985, NA19206, NA12348, NA12877, NA18498, NA18923, NA06986, NA18522, NA21514, NA12275, NA18510, NA19119, NA21455, NA12485, NA19098, NA19154, NA21648, NA18504, NA19175, NA21303, NA18487, NA18961, NA19237, NA18925, NA18997, NA10836, NA21475, NA21581, NA12283, NA19131, NA18910, NA21440, NA19141, NA21313, NA19145, NA11832, NA19235, NA19258, NA21486, NA12891, NA18987, NA10857, NA07055, NA18552, NA19138, NA21635, NA12272, NA21476, NA18909, NA18911, NA19201, NA12749, NA21344, NA06991, NA19193, NA21601, NA19128, NA18857, NA19115, NA12156, NA12386, NA06995, NA12889, NA19116, NA10835, NA19123, NA19097, NA19132, NA21383, NA10845, NA18577, NA12878, NA21362, NA11830, NA21366, NA19205, NA19225, NA18852, NA18917, NA19224, NA11993, NA12399, NA12546, NA19160, NA18499, NA18571, NA18924, NA19198, NA12817, NA12045, NA19095, NA11829, NA19130, NA19171, NA19240, NA18853, NA19204, NA19113, NA18935, NA21614, NA18908, NA19177, NA19249, NA21391, NA12274, NA19185, NA12335, NA19200, NA21365, NA11917, NA18519, NA19202, NA07000, NA10864, NA21636, NA07031, NA21526, NA07435, NA19137, NA19183, NA12827, NA12718, NA12043, NA19152, NA12249, NA18861, NA12750, NA12748, NA21490, NA12344, NA07037, NA19222, NA18933, NA07056, NA18874, NA19173, NA19252, NA12752, NA21478
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv515025
Frequency
Sample Size2366
Observed Gain286
Observed Loss0
Observed Complex0
Frequencyn/a


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