A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv442764

Internal ID15154797
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:35358591..35370946hg38UCSC Ensembl
Innerchr19:35849493..35861848hg19UCSC Ensembl
Innerchr19:40541333..40553688hg18UCSC Ensembl
Innerchr19:40541333..40553688hg17UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1652376, nssv1652450, nssv1652451, nssv1652430, nssv1652439, nssv1652419, nssv1652377, nssv1652404, nssv1652374, nssv1652413, nssv1652425, nssv1652405, nssv1652372, nssv1652370, nssv1652416, nssv1652384, nssv1652422, nssv1652381, nssv1652390, nssv1652395, nssv1652385, nssv1652371, nssv1652455, nssv1652423, nssv1652440, nssv1652402, nssv1652437, nssv1652435, nssv1652403, nssv1652447, nssv1652383, nssv1652401, nssv1652446, nssv1652380, nssv1652453, nssv1652443, nssv1652388, nssv1652389, nssv1652400, nssv1652448, nssv1652408, nssv1652449, nssv1652418, nssv1652409, nssv1652396, nssv1652433, nssv1652454, nssv1652421, nssv1652387, nssv1652393, nssv1652397, nssv1652410, nssv1652386, nssv1652434, nssv1652415, nssv1652373, nssv1652411, nssv1652378, nssv1652399, nssv1652424, nssv1652426, nssv1652431, nssv1652382, nssv1652445, nssv1652407, nssv1652398, nssv1652427, nssv1652417, nssv1652406, nssv1652394, nssv1652442, nssv1652438, nssv1652429, nssv1652420, nssv1652392, nssv1652456, nssv1652414, nssv1652412, nssv1652379, nssv1652441, nssv1652428, nssv1652444, nssv1652375, nssv1652391, nssv1652432, 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
Pubmed ID18776908
Accession Number(s)nsv442764
Sample Size270
Observed Gain1
Observed Loss86
Observed Complex0

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