A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514661



Internal ID15466295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29691624..29692372hg38UCSC Ensembl
Innerchr12:29844557..29845305hg19UCSC Ensembl
Innerchr12:29735824..29736572hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38749
hg19749
hg18749
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2792895, nssv2795327, nssv2795640, nssv2791449, nssv2797449, nssv2791375, nssv2798308, nssv2791826, nssv2791475, nssv2798124, nssv2789443, nssv2794119, nssv2791254, nssv2792252, nssv2790214, nssv2791912, nssv2795217, nssv2796941, nssv2792475, nssv2793144, nssv2797398, nssv2793112, nssv2798461, nssv2792364, nssv2796397, nssv2798340, nssv2791290, nssv2792304, nssv2795928, nssv2794215, nssv2795819, nssv2798237, nssv2789109, nssv2797084, nssv2793165, nssv2793335, nssv2795527, nssv2791353, nssv2793416, nssv2792039, nssv2797078, nssv2794419, nssv2794067, nssv2794696, nssv2794237, nssv2797077, nssv2792141, nssv2789188, nssv2794056, nssv2797493, nssv2791374, nssv2791487, nssv2798220, nssv2788713, nssv2791820, nssv2789723, nssv2794807, nssv2796059, nssv2791522, nssv2793046, nssv2790392, nssv2790163, nssv2791825, nssv2794494, nssv2790408, nssv2788707, nssv2798040, nssv2790228, nssv2795838, nssv2788920, nssv2790301, nssv2797166, nssv2797462, nssv2795914, nssv2793310, nssv2796122, nssv2795392, nssv2797137, nssv2794703, nssv2795294, nssv2793073, nssv2789468, nssv2791443, nssv2793100, nssv2793166, nssv2792777, nssv2792240, nssv2797063, nssv2790344, nssv2796710, nssv2789704, nssv2796273, nssv2795366, nssv2796246, nssv2794227, nssv2788518, nssv2797847, nssv2790893, nssv2789231, nssv2789201, nssv2792155, nssv2792981, nssv2791683, nssv2789871, nssv2792848, nssv2796030, nssv2789554, nssv2788986, nssv2794997, nssv2794358, nssv2789900, nssv2791748, nssv2791630, nssv2797713, nssv2794420, nssv2797724, nssv2789982, nssv2794801, nssv2791836, nssv2791871, nssv2789370, nssv2788801, nssv2793819, nssv2792676, nssv2795641, nssv2792586, nssv2789257, nssv2792294, nssv2795793, nssv2792000, nssv2797617, nssv2794007, nssv2797762, nssv2793586, nssv2795919, nssv2796053, nssv2791913, nssv2789781, nssv2789676, nssv2788872, nssv2796855, nssv2795801, nssv2790603, nssv2791671, nssv2793913, nssv2795658, nssv2797407, nssv2790376, nssv2791334, nssv2794272, nssv2795599, nssv2796869, nssv2793799, nssv2794775
SamplesNA12767, NA19012, NA19146, NA19183, NA21634, NA18964, NA19127, NA19152, NA18605, NA19214, NA21390, NA18594, NA19192, NA19222, NA07349, NA12801, NA18523, NA18952, NA18975, NA07056, NA18874, NA21478, NA21599, NA21404, NA18550, NA18570, NA19003, NA12340, NA18603, NA21487, NA21718, NA18948, NA18516, NA21423, NA18969, NA18972, NA07019, NA18489, NA21386, NA19144, NA19210, NA07348, NA21425, NA18994, NA07051, NA21454, NA21312, NA11893, NA18524, NA21361, NA18965, NA12376, NA18873, NA19147, NA21384, NA19143, NA18632, NA19161, NA21309, NA18998, NA18624, NA18934, NA18967, NA18566, NA11994, NA18635, NA18960, NA07357, NA19107, NA18990, NA18991, NA18930, NA18636, NA21359, NA18956, NA21453, NA18547, NA19182, NA18973, NA11995, NA18916, NA18593, NA21608, NA12777, NA19100, NA21399, NA18970, NA19190, NA19000, NA12708, NA07346, NA18518, NA18537, NA18620, NA19129, NA07014, NA18633, NA18572, NA19103, NA12778, NA21717, NA21388, NA18923, NA19102, NA06986, NA18875, NA19098, NA21382, NA21303, NA21485, NA18978, NA18487, NA18564, NA18942, NA19237, NA18925, NA18997, NA19221, NA21581, NA12283, NA18562, NA19159, NA18910, NA18974, NA19141, NA21313, NA21401, NA19235, NA18987, NA18999, NA18552, NA18911, NA12749, NA18995, NA18867, NA19128, NA12812, NA21389, NA21360, NA19123, NA21480, NA18577, NA19099, NA12546, NA21583, NA18571, NA12717, NA18532, NA18935, NA21614, NA21387, NA11917, NA19121, NA18980
Known GenesTMTC1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514661
Frequency
Sample Size2366
Observed Gain0
Observed Loss154
Observed Complex0
Frequencyn/a


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