A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442764



Internal ID15154797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:35358591..35370946hg38UCSC Ensembl
Innerchr19:35849493..35861848hg19UCSC Ensembl
Innerchr19:40541333..40553688hg18UCSC Ensembl
Innerchr19:40541333..40553688hg17UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3812356
hg1912356
hg1812356
hg1712356
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1652376, nssv1652450, nssv1652451, nssv1652439, nssv1652430, nssv1652419, nssv1652377, nssv1652404, nssv1652374, nssv1652413, nssv1652425, nssv1652405, nssv1652372, nssv1652370, nssv1652416, nssv1652422, nssv1652384, nssv1652390, nssv1652381, nssv1652395, nssv1652385, nssv1652455, nssv1652371, nssv1652423, nssv1652440, nssv1652402, nssv1652437, nssv1652435, nssv1652403, nssv1652447, nssv1652446, nssv1652401, nssv1652383, nssv1652453, nssv1652380, nssv1652443, nssv1652389, nssv1652388, nssv1652400, nssv1652448, nssv1652408, nssv1652449, nssv1652418, nssv1652409, nssv1652396, nssv1652454, nssv1652433, nssv1652421, nssv1652387, nssv1652393, nssv1652397, nssv1652410, nssv1652386, nssv1652434, nssv1652415, nssv1652373, nssv1652411, nssv1652399, nssv1652378, nssv1652424, nssv1652431, nssv1652426, nssv1652445, nssv1652382, nssv1652407, nssv1652427, nssv1652398, nssv1652417, nssv1652406, nssv1652442, nssv1652394, nssv1652438, nssv1652429, nssv1652420, nssv1652392, nssv1652456, nssv1652414, nssv1652412, nssv1652379, nssv1652441, nssv1652428, nssv1652444, nssv1652375, nssv1652432, nssv1652391, nssv1652436, nssv1652452
SamplesNA18621, NA12154, NA12249, NA12750, NA18951, NA12802, NA12801, NA18975, NA18966, NA12752, NA18612, NA18570, NA19003, NA12264, NA12815, NA10847, NA18545, NA18948, NA12707, NA18529, NA18953, NA18972, NA18573, NA18608, NA10855, NA18943, NA18949, NA10863, NA18632, NA12865, NA18998, NA18624, NA18967, NA12056, NA11839, NA11994, NA18635, NA18576, NA18960, NA10846, NA12864, NA18563, NA07345, NA18991, NA12814, NA18636, NA12740, NA07048, NA12761, NA18547, NA11831, NA11995, NA18593, NA12234, NA12144, NA18970, NA12751, NA12239, NA12716, NA18968, NA12872, NA18564, NA18961, NA18562, NA18579, NA18940, NA11832, NA18987, NA18582, NA12146, NA10860, NA18995, NA19193, NA12812, NA10835, NA07022, NA11992, NA12003, NA10838, NA12236, NA12717, NA12874, NA18532, NA06994, NA18555, NA19007, NA10854
Known GenesFFAR3
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)nsv442764
Frequency
Sample Size270
Observed Gain1
Observed Loss86
Observed Complex0
Frequencyn/a


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