A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612300



Internal ID16399709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:130839022..130840447hg38UCSC Ensembl
Innerchr8:131851268..131852693hg19UCSC Ensembl
Innerchr8:131920450..131921875hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381426
hg191426
hg181426
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12333n54
Supporting Variantsnssv1121413, nssv1121471, nssv1121444, nssv1121403, nssv1121364, nssv1121431, nssv1121463, nssv1121488, nssv1121475, nssv1121363, nssv1121401, nssv1121489, nssv1121480, nssv1121397, nssv1121433, nssv1121399, nssv1121474, nssv1121340, nssv1121483, nssv1121378, nssv1121376, nssv1121415, nssv1121469, nssv1121369, nssv1121478, nssv1121420, nssv1121365, nssv1121445, nssv1121408, nssv1121360, nssv1121446, nssv1121451, nssv1121349, nssv1121384, nssv1121428, nssv1121343, nssv1121424, nssv1121373, nssv1121354, nssv1121436, nssv1121411, nssv1121452, nssv1121357, nssv1121344, nssv1121417, nssv1121461, nssv1121374, nssv1121443, nssv1121361, nssv1121468, nssv1121421, nssv1121437, nssv1121387, nssv1121379, nssv1121359, nssv1121455, nssv1121457, nssv1121438, nssv1121439, nssv1121380, nssv1121375, nssv1121393, nssv1121353, nssv1121425, nssv1121423, nssv1121479, nssv1121368, nssv1121472, nssv1121383, nssv1121485, nssv1121466, nssv1121447, nssv1121486, nssv1121432, nssv1121462, nssv1121367, nssv1121396, nssv1121459, nssv1121429, nssv1121405, nssv1121398, nssv1121484, nssv1121382, nssv1121464, nssv1121410, nssv1121352, nssv1121465, nssv1121458, nssv1121400, nssv1121370, nssv1121394, nssv1121389, nssv1121494, nssv1121372, nssv1121467, nssv1121422, nssv1121487, nssv1121454, nssv1121440, nssv1121412, nssv1121371, nssv1121345, nssv1121342, nssv1121348, nssv1121441, nssv1121430, nssv1121418, nssv1121426, nssv1121355, nssv1121347, nssv1121435, nssv1121390, nssv1121427, nssv1121362, nssv1121350, nssv1121419, nssv1121377, nssv1121491, nssv1121404, nssv1121351, nssv1121346, nssv1121456, nssv1121416, nssv1121492, nssv1121476, nssv1121473, nssv1121407, nssv1121481, nssv1121409, nssv1121366, nssv1121448, nssv1121395, nssv1121381, nssv1121450, nssv1121493, nssv1121356, nssv1121385, nssv1121392, nssv1121341, nssv1121449, nssv1121386, nssv1121460, nssv1121391, nssv1121442, nssv1121414, nssv1121406, nssv1121470, nssv1121482, nssv1121358, nssv1121402, nssv1121453, nssv1121434, nssv1121388, nssv1121477, nssv1121490
Samples
Known GenesADCY8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612300
Frequency
Sample Size17421
Observed Gain0
Observed Loss155
Observed Complex0
Frequencyn/a


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