A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514608



Internal ID15812967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:31372237..31375829hg38UCSC Ensembl
Innerchr11:31393784..31397376hg19UCSC Ensembl
Innerchr11:31350360..31353952hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg383593
hg193593
hg183593
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2783989, nssv2786987, nssv2781064, nssv2780698, nssv2780365, nssv2778630, nssv2783230, nssv2787866, nssv2784903, nssv2779721, nssv2783613, nssv2786863, nssv2779752, nssv2782823, nssv2785731, nssv2781691, nssv2786398, nssv2783567, nssv2782459, nssv2781306, nssv2785406, nssv2778674, nssv2781525, nssv2784094, nssv2783732, nssv2780904, nssv2783669, nssv2785481, nssv2780514, nssv2780502, nssv2783069, nssv2780989, nssv2786577, nssv2785478, nssv2788241, nssv2788023, nssv2787327, nssv2784135, nssv2787621, nssv2784723, nssv2784087, nssv2782224, nssv2788099, nssv2782238, nssv2782070, nssv2786691, nssv2780472, nssv2778908, nssv2787859, nssv2779929, nssv2781640, nssv2783025, nssv2787536, nssv2785685, nssv2787620, nssv2779362, nssv2786984, nssv2785972, nssv2780203, nssv2787666, nssv2786134, nssv2779597, nssv2788476, nssv2784827, nssv2782942, nssv2783627, nssv2782979, nssv2781088, nssv2780250, nssv2778714, nssv2788110, nssv2787790, nssv2778756, nssv2781129, nssv2780927, nssv2779160, nssv2779942, nssv2785686, nssv2788236, nssv2785491, nssv2785105, nssv2782143, nssv2785056, nssv2781023, nssv2784016, nssv2784517, nssv2782540, nssv2781356, nssv2779604, nssv2778710, nssv2787468, nssv2786474, nssv2784401, nssv2778695, nssv2779960, nssv2784172, nssv2784351, nssv2784045, nssv2781052, nssv2778878, nssv2787614, nssv2785382, nssv2780409, nssv2787658, nssv2783355, nssv2779129, nssv2785671, nssv2783796, nssv2782061, nssv2783294, nssv2786320, nssv2787027, nssv2786213, nssv2780967, nssv2784818, nssv2783747, nssv2779417, nssv2779632, nssv2778711, nssv2782488, nssv2782891, nssv2781618, nssv2783999, nssv2781752, nssv2781597, nssv2780311, nssv2783493, nssv2786696, nssv2786470, nssv2788281, nssv2786465, nssv2788098, nssv2785024, nssv2783795, nssv2779046, nssv2786935, nssv2785196, nssv2785637, nssv2783026, nssv2784848, nssv2784904
SamplesNA11830, NA19186, NA12286, NA12814, NA10851, NA12414, NA18980, NA12236, NA18935, NA12843, NA11920, NA12344, NA12751, NA12004, NA12801, NA12340, NA12248, NA12146, NA12058, NA21301, NA12832, NA18870, NA12400, NA12155, NA07357, NA12813, NA18563, NA12812, NA10835, NA12336, NA12348, NA11992, NA07048, NA19197, NA07347, NA12283, NA18571, NA21391, NA18611, NA12761, NA11917, NA12282, NA12275, NA18970, NA07019, NA12274, NA12156, NA06984, NA07014, NA12044, NA11994, NA10850, NA12889, NA19209, NA21344, NA12748, NA11993, NA19210, NA12760, NA12752, NA07022, NA18934, NA10836, NA12343, NA10863, NA12878, NA12485, NA18485, NA18516, NA12877, NA12718, NA19097, NA21438, NA10838, NA12234, NA12386, NA12829, NA19181, NA11894, NA11840, NA12249, NA12892, NA12239, NA06989, NA12827, NA12264, NA12817, NA10852, NA12766, NA19252, NA12144, NA06985, NA18523, NA19095, NA12778, NA10856, NA18576, NA12043, NA21302, NA11882, NA06991, NA12716, NA11881, NA18517, NA12775, NA12873, NA07051, NA21390, NA07348, NA12763, NA07055, NA12347, NA06986, NA19143, NA12708, NA18501, NA18484, NA12740, NA06994, NA18971, NA07435, NA21404, NA10843, NA19211, NA19093, NA10860, NA18500, NA19185, NA21581, NA07056, NA18488, NA12890, NA07000, NA12154, NA07034, NA10864, NA19214, NA18487, NA18562, NA18577, NA11832
Known GenesDNAJC24
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514608
Frequency
Sample Size2366
Observed Gain0
Observed Loss141
Observed Complex0
Frequencyn/a


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