A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442598



Internal ID15501317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5766850..5787909hg38UCSC Ensembl
Innerchr11:5788080..5809139hg19UCSC Ensembl
Innerchr11:5744656..5765715hg18UCSC Ensembl
Innerchr11:5744656..5765715hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3821060
hg1921060
hg1821060
hg1721060
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1642426, nssv1642411, nssv1642444, nssv1642443, nssv1642410, nssv1642365, nssv1642378, nssv1642400, nssv1642367, nssv1642395, nssv1642394, nssv1642366, nssv1642409, nssv1642413, nssv1642436, nssv1642404, nssv1642421, nssv1642373, nssv1642437, nssv1642442, nssv1642449, nssv1642383, nssv1642425, nssv1642427, nssv1642399, nssv1642392, nssv1642377, nssv1642414, nssv1642374, nssv1642454, nssv1642417, nssv1642419, nssv1642376, nssv1642406, nssv1642439, nssv1642368, nssv1642445, nssv1642420, nssv1642386, nssv1642447, nssv1642407, nssv1642405, nssv1642416, nssv1642385, nssv1642372, nssv1642398, nssv1642434, nssv1642384, nssv1642403, nssv1642448, nssv1642429, nssv1642388, nssv1642435, nssv1642438, nssv1642408, nssv1642393, nssv1642401, nssv1642396, nssv1642450, nssv1642402, nssv1642428, nssv1642451, nssv1642381, nssv1642424, nssv1642422, nssv1642387, nssv1642390, nssv1642452, nssv1642391, nssv1642432, nssv1642430, nssv1642379, nssv1642375, nssv1642370, nssv1642418, nssv1642371, nssv1642440, nssv1642380, nssv1642412, nssv1642369, nssv1642389, nssv1642382, nssv1642433, nssv1642446, nssv1642397, nssv1642441, nssv1642453, nssv1642415, nssv1642431, nssv1642423
SamplesNA19141, NA12717, NA19222, NA18621, NA11995, NA10851, NA18855, NA18507, NA19145, NA12751, NA12004, NA12146, NA18959, NA18870, NA12750, NA12155, NA12813, NA19192, NA19005, NA18940, NA12812, NA19201, NA10846, NA18995, NA10854, NA12762, NA19130, NA18611, NA12761, NA19137, NA11994, NA19172, NA19128, NA18966, NA19159, NA18990, NA19239, NA11993, NA18951, NA18605, NA19210, NA12760, NA12752, NA12753, NA12003, NA10863, NA19152, NA12872, NA19161, NA18529, NA18871, NA19103, NA18572, NA18976, NA11839, NA10838, NA12234, NA19221, NA19202, NA19142, NA11840, NA12056, NA12239, NA18853, NA12264, NA19101, NA12144, NA06985, NA19160, NA19132, NA18570, NA18576, NA18632, NA19206, NA12716, NA18564, NA12057, NA10861, NA12874, NA18594, NA19143, NA18501, NA12740, NA18609, NA18972, NA18872, NA18552, NA19129, NA18577, NA18620
Known GenesOR52N1, OR52N5
MethodSNP array
AnalysisWe used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.
Platform[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Comments
ReferenceMcCarroll_et_al_2008
Pubmed ID18776908
Accession Number(s)nsv442598
Frequency
Sample Size270
Observed Gain0
Observed Loss90
Observed Complex0
Frequencyn/a


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