A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546829



Internal ID15987552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:93822968..93825696hg38UCSC Ensembl
Innerchr1:94288524..94291252hg19UCSC Ensembl
Innerchr1:94061112..94063840hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg382729
hg192729
hg182729
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv719353, nssv719505, nssv719398, nssv719343, nssv719436, nssv719557, nssv719380, nssv719357, nssv719400, nssv719504, nssv719465, nssv719421, nssv719463, nssv719429, nssv719443, nssv719391, nssv719552, nssv719369, nssv719413, nssv719433, nssv719514, nssv719374, nssv719425, nssv719345, nssv719503, nssv719402, nssv719511, nssv719486, nssv719490, nssv719498, nssv719478, nssv719578, nssv719403, nssv719484, nssv719348, nssv719462, nssv719526, nssv719553, nssv719494, nssv719536, nssv719575, nssv719482, nssv719401, nssv719518, nssv719562, nssv719415, nssv719481, nssv719350, nssv719387, nssv719351, nssv719373, nssv719438, nssv719563, nssv719407, nssv719547, nssv719555, nssv719489, nssv719411, nssv719435, nssv719534, nssv719539, nssv719354, nssv719546, nssv719579, nssv719341, nssv719495, nssv719389, nssv719370, nssv719483, nssv719551, nssv719520, nssv719581, nssv719366, nssv719447, nssv719560, nssv719404, nssv719377, nssv719394, nssv719365, nssv719397, nssv719497, nssv719427, nssv719382, nssv719545, nssv719516, nssv719570, nssv719420, nssv719524, nssv719442, nssv719501, nssv719363, nssv719533, nssv719450, nssv719473, nssv719424, nssv719474, nssv719487, nssv719428, nssv719566, nssv719364, nssv719492, nssv719356, nssv719523, nssv719456, nssv719432, nssv719368, nssv719346, nssv719393, nssv719559, nssv719349, nssv719515, nssv719392, nssv719388, nssv719527, nssv719548, nssv719502, nssv719342, nssv719550, nssv719422, nssv719414, nssv719344, nssv719460, nssv719396, nssv719430, nssv719371, nssv719440, nssv719451, nssv719408, nssv719531, nssv719538, nssv719576, nssv719416, nssv719543, nssv719453, nssv719378, nssv719476, nssv719568, nssv719384, nssv719491, nssv719383, nssv719455, nssv719423, nssv719471, nssv719417, nssv719564, nssv719385, nssv719510, nssv719359, nssv719529, nssv719439, nssv719395, nssv719375, nssv719528, nssv719554, nssv719412, nssv719468, nssv719499, nssv719513, nssv719449, nssv719467, nssv719480, nssv719500, nssv719519, nssv719558, nssv719434, nssv719477, nssv719399, nssv719379, nssv719496, nssv719567, nssv719469, nssv719549, nssv719572, nssv719472, nssv719431, nssv719542, nssv719565, nssv719376, nssv719464, nssv719466, nssv719461, nssv719446, nssv719509, nssv719521, nssv719569, nssv719580, nssv719358, nssv719444, nssv719507, nssv719535, nssv719488, nssv719367, nssv719418, nssv719362, nssv719574, nssv719582, nssv719372, nssv719437, nssv719361, nssv719475, nssv719405, nssv719540, nssv719406, nssv719360, nssv719458, nssv719530, nssv719541, nssv719561, nssv719426, nssv719573, nssv719454, nssv719537, nssv719390, nssv719512, nssv719517, nssv719441, nssv719381, nssv719571, nssv719445, nssv719479, nssv719506, nssv719544, nssv719525, nssv719419, nssv719410, nssv719532, nssv719577, nssv719352, nssv719508, nssv719409, nssv719347, nssv719556, nssv719452, nssv719459, nssv719457, nssv719355, nssv719522, nssv719448, nssv719470, nssv719386, nssv719485, nssv719493, nssv719340
Samples
Known GenesBCAR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546829
Frequency
Sample Size17421
Observed Gain1
Observed Loss242
Observed Complex0
Frequencyn/a


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