A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514239



Internal ID15812656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:106139354..106142154hg38UCSC Ensembl
Innerchr4:107060511..107063311hg19UCSC Ensembl
Innerchr4:107279960..107282760hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg382801
hg192801
hg182801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2899964, nssv2900460, nssv2900386, nssv2900458, nssv2900380, nssv2900433, nssv2900432, nssv2900430, nssv2900435, nssv2900395, nssv2900344, nssv2900404, nssv2899968, nssv2900399, nssv2900384, nssv2899942, nssv2901411, nssv2899940, nssv2900426, nssv2900448, nssv2900397, nssv2899960, nssv2900411, nssv2900341, nssv2900367, nssv2899962, nssv2900340, nssv2900440, nssv2900348, nssv2900450, nssv2900383, nssv2900373, nssv2899939, nssv2900443, nssv2900372, nssv2900351, nssv2899959, nssv2900378, nssv2899956, nssv2900414, nssv2901412, nssv2900347, nssv2900359, nssv2900457, nssv2900355, nssv2900423, nssv2900377, nssv2900468, nssv2899969, nssv2900370, nssv2900412, nssv2899941, nssv2900345, nssv2900464, nssv2900379, nssv2900350, nssv2900470, nssv2900400, nssv2900393, nssv2900452, nssv2900385, nssv2900388, nssv2899945, nssv2900444, nssv2900358, nssv2900431, nssv2899947, nssv2899963, nssv2900439, nssv2900437, nssv2900420, nssv2900366, nssv2900368, nssv2900445, nssv2900413, nssv2900361, nssv2899944, nssv2900461, nssv2900353, nssv2900401, nssv2900387, nssv2900402, nssv2899954, nssv2900369, nssv2899952, nssv2900466, nssv2899938, nssv2900407, nssv2899957, nssv2900453, nssv2899961, nssv2900471, nssv2900446, nssv2900394, nssv2900356, nssv2900449, nssv2899950, nssv2900406, nssv2900389, nssv2900375, nssv2900424, nssv2900410, nssv2900463, nssv2900416, nssv2899970, nssv2899967, nssv2900459, nssv2900427, nssv2900462, nssv2900409, nssv2900362, nssv2900342, nssv2899955, nssv2900391, nssv2900419, nssv2900454, nssv2900398, nssv2899937, nssv2900405, nssv2899953, nssv2900436, nssv2900343, nssv2900425, nssv2900392, nssv2900441, nssv2900364, nssv2900396, nssv2899951, nssv2899966, nssv2900455, nssv2900415, nssv2900467, nssv2900421, nssv2900456, nssv2900382, nssv2900374, nssv2900363, nssv2900354, nssv2900390, nssv2900451, nssv2900422, nssv2900357, nssv2900417, nssv2900434, nssv2900438, nssv2900429, nssv2899948, nssv2900428, nssv2900371, nssv2900365, nssv2899965, nssv2900442, nssv2900360, nssv2899946, nssv2900349, nssv2900376, nssv2900465, nssv2900403, nssv2900346, nssv2900418, nssv2900469, nssv2900381, nssv2899943, nssv2899958, nssv2899949, nssv2900447, nssv2900408, nssv2900352
SamplesNA21403, NA18998, NA18497, NA19258, NA21686, NA21317, NA21477, NA12842, NA21423, NA12286, NA19249, NA18862, NA18592, NA10851, NA12273, NA12414, NA18980, NA21476, NA12843, NA11920, NA12344, NA18917, NA12045, NA18486, NA12751, NA21648, NA12004, NA21386, NA12340, NA12058, NA10857, NA12832, NA12400, NA18633, NA12750, NA07357, NA18969, NA19107, NA12813, NA18940, NA12812, NA10835, NA18995, NA18635, NA12348, NA18960, NA18942, NA11992, NA07048, NA21479, NA11918, NA07347, NA21493, NA19138, NA18498, NA06993, NA18611, NA18970, NA21382, NA12274, NA12156, NA06984, NA21454, NA12044, NA11994, NA21453, NA19128, NA21478, NA12889, NA12815, NA19159, NA18990, NA10855, NA21387, NA18975, NA18973, NA18867, NA19007, NA10847, NA21480, NA12335, NA19210, NA12760, NA12489, NA12752, NA10836, NA12343, NA10863, NA10831, NA12872, NA19161, NA19184, NA18991, NA18579, NA11839, NA18981, NA12234, NA21485, NA18537, NA12386, NA12829, NA18499, NA11894, NA12249, NA12239, NA12264, NA10852, NA19257, NA12766, NA18593, NA18945, NA18974, NA21302, NA21608, NA18953, NA11882, NA19183, NA06991, NA12716, NA18909, NA11881, NA19108, NA18952, NA18863, NA10859, NA12272, NA12873, NA18992, NA10840, NA18869, NA07348, NA12763, NA12347, NA06986, NA19182, NA12708, NA18484, NA12740, NA19248, NA21580, NA07435, NA21404, NA19223, NA10843, NA18994, NA10860, NA18636, NA12830, NA18609, NA21614, NA11843, NA21384, NA21303, NA19129, NA11892, NA18488, NA18624, NA21487, NA12154, NA07034, NA18612, NA10864, NA10837, NA18622, NA12776, NA18965, NA18577, NA11832
Known GenesTBCK
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514239
Frequency
Sample Size2366
Observed Gain0
Observed Loss168
Observed Complex0
Frequencyn/a


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