A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515047



Internal ID15466681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76515723..76520339hg38UCSC Ensembl
Innerchr7:76145040..76149656hg19UCSC Ensembl
Innerchr7:75982976..75987592hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg384617
hg194617
hg184617
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2951584, nssv2950303, nssv2951566, nssv2951464, nssv2951492, nssv2951465, nssv2951508, nssv2951560, nssv2951475, nssv2950321, nssv2950332, nssv2951506, nssv2951507, nssv2950323, nssv2951572, nssv2951519, nssv2951490, nssv2951472, nssv2951457, nssv2951448, nssv2951557, nssv2951473, nssv2950331, nssv2950313, nssv2951556, nssv2951452, nssv2951567, nssv2951512, nssv2951467, nssv2951504, nssv2951477, nssv2950328, nssv2950298, nssv2950326, nssv2950294, nssv2951568, nssv2951551, nssv2951451, nssv2951496, nssv2951469, nssv2950337, nssv2950318, nssv2951533, nssv2951563, nssv2950334, nssv2951580, nssv2951502, nssv2951511, nssv2951546, nssv2951455, nssv2951461, nssv2951578, nssv2951488, nssv2951486, nssv2951499, nssv2951543, nssv2951497, nssv2951510, nssv2951487, nssv2951561, nssv2951577, nssv2951516, nssv2950316, nssv2951450, nssv2951513, nssv2951479, nssv2950330, nssv2950324, nssv2950320, nssv2951583, nssv2951482, nssv2951553, nssv2951485, nssv2951449, nssv2951570, nssv2951447, nssv2950291, nssv2951542, nssv2950295, nssv2951552, nssv2951550, nssv2951514, nssv2951564, nssv2950339, nssv2950329, nssv2950304, nssv2950306, nssv2951575, nssv2951538, nssv2950319, nssv2950314, nssv2951476, nssv2951574, nssv2951539, nssv2951456, nssv2951523, nssv2950300, nssv2951528, nssv2951498, nssv2951518, nssv2951495, nssv2951500, nssv2951540, nssv2950309, nssv2950293, nssv2951521, nssv2951468, nssv2951562, nssv2951493, nssv2951474, nssv2951515, nssv2951534, nssv2951547, nssv2950308, nssv2951554, nssv2951505, nssv2951581, nssv2950338, nssv2951559, nssv2950335, nssv2951480, nssv2951459, nssv2951524, nssv2951517, nssv2951541, nssv2951536, nssv2951526, nssv2950301, nssv2951494, nssv2951579, nssv2951544, nssv2950325, nssv2951525, nssv2951458, nssv2951453, nssv2951478, nssv2951471, nssv2951460, nssv2951573, nssv2951545, nssv2951531, nssv2951522, nssv2950315, nssv2950292, nssv2951549, nssv2950302, nssv2951529, nssv2951582, nssv2951481, nssv2950322, nssv2951565, nssv2951530, nssv2951537, nssv2950336, nssv2951527, nssv2951466, nssv2950289, nssv2951576, nssv2951462, nssv2951491, nssv2951470, nssv2951503, nssv2950310, nssv2951489, nssv2951463, nssv2950290, nssv2950311, nssv2951509, nssv2951548, nssv2950299, nssv2951558, nssv2951535, nssv2950312, nssv2951571, nssv2951532, nssv2950327, nssv2950307, nssv2951555, nssv2950317, nssv2950296, nssv2951569, nssv2951454, nssv2950333, nssv2951483, nssv2950305, nssv2951501, nssv2950297, nssv2951484, nssv2951520
SamplesNA18998, NA18497, NA19258, NA19237, NA12717, NA21636, NA21317, NA21477, NA21423, NA18924, NA19249, NA11995, NA18592, NA12814, NA10851, NA18524, NA12767, NA12414, NA12236, NA18935, NA11920, NA21399, NA12344, NA19145, NA18999, NA18603, NA19092, NA18486, NA18545, NA12801, NA18959, NA10857, NA12832, NA12400, NA18633, NA12750, NA12341, NA19107, NA18967, NA18563, NA19127, NA19171, NA19005, NA18940, NA10835, NA10846, NA19119, NA12891, NA18558, NA18547, NA18960, NA18942, NA07347, NA18582, NA18964, NA06993, NA21391, NA18949, NA18611, NA12761, NA12275, NA12005, NA21447, NA19180, NA12156, NA06984, NA07014, NA11994, NA21525, NA18966, NA12889, NA19189, NA21523, NA21362, NA19209, NA21634, NA21387, NA21400, NA21344, NA18973, NA21494, NA11993, NA19007, NA11831, NA12777, NA21480, NA21307, NA12335, NA12760, NA12489, NA12752, NA12753, NA19175, NA10863, NA19152, NA12878, NA18956, NA18991, NA18516, NA21439, NA18579, NA12718, NA18910, NA18572, NA18948, NA19097, NA11839, NA21438, NA10838, NA19202, NA18537, NA21441, NA18573, NA12818, NA18875, NA12829, NA11893, NA19181, NA11894, NA18930, NA12056, NA06989, NA18853, NA12145, NA12817, NA19101, NA19257, NA18555, NA19252, NA12144, NA06985, NA21583, NA12778, NA18570, NA18945, NA19012, NA18974, NA12043, NA18608, NA21608, NA18953, NA19003, NA18632, NA11882, NA19206, NA18542, NA06991, NA12716, NA11881, NA19115, NA18961, NA12272, NA21425, NA12873, NA07051, NA21390, NA07348, NA07037, NA21388, NA21361, NA21513, NA06986, NA18594, NA12740, NA06994, NA21580, NA19173, NA18987, NA12749, NA18994, NA19093, NA10860, NA19185, NA21581, NA12875, NA21486, NA21455, NA19116, NA21384, NA18972, NA21490, NA07056, NA21363, NA19148, NA18968, NA21514, NA21440, NA19214, NA18622
Known GenesUPK3B
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv515047
Frequency
Sample Size2366
Observed Gain146
Observed Loss43
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer