A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514249



Internal ID15812666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:121361091..121367979hg38UCSC Ensembl
Innerchr4:122282246..122289134hg19UCSC Ensembl
Innerchr4:122501696..122508584hg18UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg386889
hg196889
hg186889
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2900907, nssv2900865, nssv2900898, nssv2900851, nssv2900876, nssv2900902, nssv2900852, nssv2900921, nssv2900861, nssv2900856, nssv2900859, nssv2900919, nssv2900913, nssv2900922, nssv2900875, nssv2900899, nssv2900905, nssv2900912, nssv2900908, nssv2900858, nssv2900883, nssv2900906, nssv2900887, nssv2900901, nssv2900924, nssv2900877, nssv2900862, nssv2900891, nssv2900903, nssv2900868, nssv2900893, nssv2900918, nssv2900857, nssv2900925, nssv2900897, nssv2900879, nssv2900920, nssv2900916, nssv2900881, nssv2900890, nssv2900854, nssv2900850, nssv2900847, nssv2900878, nssv2900927, nssv2900872, nssv2900846, nssv2900870, nssv2900909, nssv2900860, nssv2900889, nssv2900853, nssv2900894, nssv2900873, nssv2900910, nssv2900874, nssv2900848, nssv2900886, nssv2900917, nssv2900863, nssv2900914, nssv2900896, nssv2900884, nssv2900915, nssv2900892, nssv2900900, nssv2900904, nssv2900895, nssv2900867, nssv2900911, nssv2900882, nssv2900864, nssv2900869, nssv2900880, nssv2900885, nssv2900849, nssv2900855, nssv2900866, nssv2900888, nssv2900926, nssv2900923, nssv2900871
SamplesNA21403, NA18497, NA19258, NA19237, NA19222, NA12814, NA18524, NA18507, NA19145, NA18917, NA18603, NA12801, NA21301, NA19098, NA18870, NA18633, NA18550, NA12812, NA18558, NA18547, NA12283, NA18964, NA21391, NA21382, NA18874, NA18868, NA21454, NA12044, NA11994, NA19235, NA19159, NA21387, NA18908, NA12375, NA21344, NA19007, NA19194, NA18991, NA19236, NA18910, NA18572, NA19221, NA19177, NA07031, NA18875, NA19181, NA18499, NA18930, NA12892, NA19154, NA19257, NA18555, NA12766, NA19225, NA18523, NA18945, NA18974, NA21302, NA18608, NA19094, NA18978, NA18542, NA12775, NA19144, NA18992, NA21390, NA19193, NA18911, NA18594, NA21404, NA19223, NA19093, NA18506, NA21581, NA21455, NA21389, NA19121, NA19224, NA18624, NA19153, NA12776, NA18620
Known GenesQRFPR
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514249
Frequency
Sample Size2366
Observed Gain0
Observed Loss82
Observed Complex0
Frequencyn/a


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