A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442912



Internal ID15154945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86054941..86058791hg38UCSC Ensembl
Innerchr4:86976094..86979944hg19UCSC Ensembl
Innerchr4:87195118..87198968hg18UCSC Ensembl
Innerchr4:87333273..87337123hg17UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg383851
hg193851
hg183851
hg173851
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1625163, nssv1626218, nssv1625378, nssv1626552, nssv1626504, nssv1625486, nssv1624948, nssv1625706, nssv1624954, nssv1625872, nssv1625480, nssv1625670, nssv1625816, nssv1626430, nssv1625687, nssv1625080, nssv1626497, nssv1626452, nssv1625142, nssv1625552, nssv1625595, nssv1626122, nssv1625920, nssv1626587, nssv1626449, nssv1625369, nssv1626034, nssv1625044, nssv1625311, nssv1625339, nssv1625460, nssv1625375, nssv1626118, nssv1625002, nssv1626542
SamplesNA19142, NA11881, NA12154, NA18863, NA19194, NA12750, NA19192, NA12801, NA18523, NA10847, NA12005, NA18860, NA18506, NA18862, NA19140, NA12763, NA18508, NA19239, NA12753, NA07357, NA18856, NA19206, NA19098, NA12057, NA18858, NA19159, NA12891, NA12146, NA12812, NA18857, NA19132, NA12878, NA11830, NA19130, NA19240
Known GenesMAPK10
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)nsv442912
Frequency
Sample Size270
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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