A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514376



Internal ID15466064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:78262380..78321436hg38UCSC Ensembl
Innerchr6:78972097..79031153hg19UCSC Ensembl
Innerchr6:79028816..79087872hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3859057
hg1959057
hg1859057
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2933994, nssv2933973, nssv2933976, nssv2933948, nssv2933944, nssv2933960, nssv2933990, nssv2933953, nssv2934007, nssv2933989, nssv2933967, nssv2933993, nssv2934798, nssv2933956, nssv2934008, nssv2933987, nssv2934794, nssv2933951, nssv2934774, nssv2934001, nssv2933980, nssv2933977, nssv2934781, nssv2934800, nssv2934795, nssv2934792, nssv2934009, nssv2933982, nssv2933981, nssv2933969, nssv2933985, nssv2933979, nssv2934768, nssv2934022, nssv2933975, nssv2934006, nssv2934793, nssv2933958, nssv2933995, nssv2933959, nssv2933983, nssv2934782, nssv2934801, nssv2934790, nssv2933992, nssv2934016, nssv2933998, nssv2934002, nssv2933963, nssv2933950, nssv2934775, nssv2934017, nssv2934028, nssv2934024, nssv2933968, nssv2933972, nssv2933947, nssv2934769, nssv2933954, nssv2934019, nssv2933974, nssv2934000, nssv2934776, nssv2934770, nssv2934786, nssv2933966, nssv2933984, nssv2933957, nssv2934011, nssv2934029, nssv2933949, nssv2933962, nssv2934773, nssv2933991, nssv2934025, nssv2934784, nssv2933999, nssv2933965, nssv2933996, nssv2934787, nssv2933970, nssv2933955, nssv2934012, nssv2933946, nssv2934005, nssv2934791, nssv2934004, nssv2934003, nssv2933978, nssv2934785, nssv2934015, nssv2934018, nssv2934788, nssv2933961, nssv2934799, nssv2934796, nssv2933997, nssv2934014, nssv2934789, nssv2934772, nssv2933988, nssv2934779, nssv2934021, nssv2933945, nssv2934778, nssv2934010, nssv2934026, nssv2933986, nssv2934783, nssv2934797, nssv2933952, nssv2934013, nssv2933964, nssv2934027, nssv2933971, nssv2934780, nssv2934771, nssv2934777, nssv2934020, nssv2934802, nssv2934023
SamplesNA18998, NA19258, NA11830, NA19186, NA12842, NA21524, NA21423, NA18947, NA12286, NA18862, NA12814, NA10851, NA12767, NA12236, NA12843, NA11920, NA12344, NA18504, NA12340, NA12146, NA12832, NA12400, NA21522, NA12750, NA07357, NA12341, NA12813, NA07346, NA19171, NA10835, NA10846, NA21600, NA18995, NA12802, NA19119, NA19198, NA12891, NA11918, NA12283, NA18964, NA06993, NA11930, NA11917, NA07019, NA12274, NA06984, NA07014, NA21525, NA18966, NA12889, NA10855, NA19209, NA21400, NA21344, NA18867, NA10847, NA12777, NA21480, NA12335, NA19210, NA07022, NA12753, NA10836, NA12878, NA12485, NA18859, NA19184, NA12877, NA18503, NA10838, NA21366, NA21485, NA19179, NA11919, NA19000, NA07031, NA19181, NA18499, NA11894, NA10830, NA12249, NA12056, NA12264, NA12145, NA10852, NA19257, NA12144, NA06985, NA18632, NA11882, NA06991, NA11881, NA18863, NA21425, NA12873, NA21615, NA21390, NA10840, NA18869, NA12874, NA07348, NA07037, NA21513, NA12347, NA06994, NA10843, NA07349, NA18987, NA12749, NA19211, NA12830, NA12329, NA21581, NA12875, NA11843, NA18852, NA07056, NA21487, NA21514, NA18965, NA11832
Known Genes
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514376
Frequency
Sample Size2366
Observed Gain0
Observed Loss121
Observed Complex0
Frequencyn/a


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