A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514433



Internal ID15812844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:93697864..93702112hg38UCSC Ensembl
Innerchr7:93327176..93331424hg19UCSC Ensembl
Innerchr7:93165112..93169360hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg384249
hg194249
hg184249
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2952327, nssv2952418, nssv2952402, nssv2952322, nssv2952372, nssv2952369, nssv2952406, nssv2952429, nssv2952399, nssv2952413, nssv2952359, nssv2952339, nssv2952378, nssv2952391, nssv2952401, nssv2952357, nssv2952362, nssv2952342, nssv2952408, nssv2952336, nssv2952427, nssv2952382, nssv2952347, nssv2952432, nssv2952376, nssv2952423, nssv2952349, nssv2952437, nssv2952341, nssv2952439, nssv2952346, nssv2952426, nssv2952365, nssv2952356, nssv2952420, nssv2952335, nssv2952373, nssv2952412, nssv2952361, nssv2952355, nssv2952315, nssv2952368, nssv2952320, nssv2952380, nssv2952358, nssv2952321, nssv2952395, nssv2952398, nssv2952424, nssv2952440, nssv2952338, nssv2952436, nssv2952414, nssv2952438, nssv2952316, nssv2952434, nssv2952328, nssv2952364, nssv2952400, nssv2952345, nssv2952330, nssv2952350, nssv2952325, nssv2952337, nssv2952313, nssv2952421, nssv2952416, nssv2952387, nssv2952397, nssv2952343, nssv2952388, nssv2952311, nssv2952331, nssv2952375, nssv2952379, nssv2952329, nssv2952314, nssv2952417, nssv2952435, nssv2952324, nssv2952409, nssv2952392, nssv2952390, nssv2952428, nssv2952370, nssv2952318, nssv2952374, nssv2952334, nssv2952403, nssv2952385, nssv2952419, nssv2952344, nssv2952319, nssv2952404, nssv2952441, nssv2952396, nssv2952340, nssv2952433, nssv2952422, nssv2952363, nssv2952410, nssv2952326, nssv2952354, nssv2952351, nssv2952411, nssv2952383, nssv2952360, nssv2952348, nssv2952393, nssv2952407, nssv2952442, nssv2952371, nssv2952384, nssv2952353, nssv2952352, nssv2952317, nssv2952430, nssv2952377, nssv2952405, nssv2952332, nssv2952312, nssv2952367, nssv2952394, nssv2952431, nssv2952389, nssv2952415, nssv2952386, nssv2952381, nssv2952425, nssv2952323, nssv2952366, nssv2952333
SamplesNA12383, NA12717, NA19222, NA18621, NA11829, NA18861, NA12814, NA10851, NA12236, NA12344, NA18999, NA12045, NA18486, NA12340, NA12248, NA10857, NA21360, NA18870, NA12750, NA12399, NA07357, NA12813, NA19127, NA19171, NA19201, NA21600, NA19191, NA12802, NA19198, NA12891, NA18558, NA12348, NA07048, NA11918, NA21493, NA21365, NA12275, NA12005, NA21447, NA19180, NA18868, NA21454, NA12044, NA11994, NA19172, NA19159, NA19189, NA21601, NA21523, NA10839, NA21400, NA18867, NA21494, NA10847, NA21599, NA12777, NA12335, NA19210, NA12760, NA12489, NA07022, NA10836, NA12872, NA19161, NA19205, NA21439, NA12718, NA12376, NA11839, NA10838, NA19179, NA19221, NA12818, NA19177, NA19150, NA19181, NA19151, NA11840, NA10830, NA12056, NA12892, NA18532, NA12239, NA06989, NA12827, NA12145, NA10852, NA12766, NA12144, NA10856, NA18576, NA12043, NA21302, NA06995, NA11882, NA19206, NA19183, NA12864, NA12775, NA19140, NA19240, NA21425, NA12873, NA07051, NA18869, NA07037, NA07055, NA12347, NA12708, NA19117, NA06994, NA07435, NA19178, NA19173, NA19211, NA18500, NA12830, NA19102, NA12875, NA19096, NA21455, NA18872, NA21303, NA19129, NA11892, NA19146, NA18488, NA19148, NA18522, NA12154, NA19214, NA12776
Known Genes
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514433
Frequency
Sample Size2366
Observed Gain0
Observed Loss132
Observed Complex0
Frequencyn/a


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