A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514002



Internal ID15466887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109679679..109700311hg38UCSC Ensembl
Innerchr1:110222301..110242933hg19UCSC Ensembl
Innerchr1:110023824..110044456hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3820633
hg1920633
hg1820633
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2847104, nssv2847158, nssv2847129, nssv2847057, nssv2847029, nssv2846154, nssv2847042, nssv2846190, nssv2846097, nssv2847101, nssv2847091, nssv2847089, nssv2846238, nssv2847154, nssv2846157, nssv2846163, nssv2846235, nssv2846148, nssv2847162, nssv2846212, nssv2846218, nssv2846232, nssv2846089, nssv2847062, nssv2846170, nssv2847143, nssv2847115, nssv2846174, nssv2846095, nssv2846110, nssv2847148, nssv2846220, nssv2846105, nssv2846165, nssv2846147, nssv2846138, nssv2847094, nssv2846208, nssv2846177, nssv2846197, nssv2846164, nssv2847069, nssv2847160, nssv2847125, nssv2846196, nssv2846108, nssv2846167, nssv2847039, nssv2847026, nssv2847137, nssv2847131, nssv2847140, nssv2847065, nssv2846137, nssv2847150, nssv2847130, nssv2847053, nssv2846125, nssv2846088, nssv2847063, nssv2847035, nssv2847147, nssv2846126, nssv2847102, nssv2847085, nssv2847127, nssv2846217, nssv2846168, nssv2846236, nssv2846166, nssv2846145, nssv2846100, nssv2847133, nssv2847149, nssv2847117, nssv2846194, nssv2846156, nssv2847159, nssv2846193, nssv2847119, nssv2846202, nssv2846098, nssv2847024, nssv2847036, nssv2846159, nssv2846198, nssv2847076, nssv2847075, nssv2847116, nssv2846213, nssv2847120, nssv2846133, nssv2846107, nssv2846175, nssv2846119, nssv2847118, nssv2846141, nssv2847135, nssv2846176, nssv2847155, nssv2846239, nssv2846229, nssv2846129, nssv2847028, nssv2846122, nssv2846117, nssv2847037, nssv2846195, nssv2846115, nssv2846201, nssv2846181, nssv2846094, nssv2847050, nssv2847078, nssv2847095, nssv2846240, nssv2846143, nssv2847103, nssv2847114, nssv2847141, nssv2847061, nssv2846136, nssv2847152, nssv2847113, nssv2846118, nssv2847126, nssv2847100, nssv2846173, nssv2847031, nssv2847032, nssv2846130, nssv2847047, nssv2846205, nssv2846179, nssv2846142, nssv2846203, nssv2846241, nssv2846135, nssv2846099, nssv2847066, nssv2847161, nssv2847079, nssv2847088, nssv2847134, nssv2847123, nssv2846132, nssv2847052, nssv2846182, nssv2847107, nssv2846150, nssv2846093, nssv2846128, nssv2847071, nssv2846152, nssv2847087, nssv2846139, nssv2847153, nssv2847097, nssv2846187, nssv2846186, nssv2847136, nssv2847124, nssv2846112, nssv2847048, nssv2847080, nssv2846233, nssv2847092, nssv2847025, nssv2846153, nssv2846162, nssv2847043, nssv2847027, nssv2846124, nssv2846106, nssv2847083, nssv2847033, nssv2846103, nssv2846140, nssv2846113, nssv2846134, nssv2847054, nssv2847109, nssv2846151, nssv2847144, nssv2846178, nssv2847156, nssv2846234, nssv2847096, nssv2847068, nssv2846200, nssv2846180, nssv2846214, nssv2846087, nssv2846086, nssv2847142, nssv2846120, nssv2846242, nssv2846121, nssv2847034, nssv2847081, nssv2846221, nssv2846161, nssv2846189, nssv2846222, nssv2847157, nssv2847041, nssv2846183, nssv2846085, nssv2847098, nssv2847086, nssv2846131, nssv2846226, nssv2846216, nssv2847049, nssv2846114, nssv2847058, nssv2846207, nssv2846237, nssv2846116, nssv2846102, nssv2847082, nssv2847077, nssv2847073, nssv2846243, nssv2846210, nssv2846149, nssv2847122, nssv2846160, nssv2846209, nssv2847093, nssv2846199, nssv2846192, nssv2846230, nssv2847146, nssv2847046, nssv2847070, nssv2847064, nssv2847074, nssv2846092, nssv2846224, nssv2846169, nssv2847099, nssv2847090, nssv2847108, nssv2846155, nssv2846231, nssv2847055, nssv2847128, nssv2846158, nssv2847138, nssv2847105, nssv2846223, nssv2846091, nssv2846219, nssv2846225, nssv2846228, nssv2847072, nssv2846111, nssv2846227, nssv2847151, nssv2847084, nssv2846206, nssv2846123, nssv2847132, nssv2846204, nssv2846172, nssv2846144, nssv2847045, nssv2847056, nssv2846109, nssv2846090, nssv2847067, nssv2847145, nssv2846101, nssv2846184, nssv2847110, nssv2846188, nssv2846185, nssv2847060, nssv2847112, nssv2846096, nssv2847111, nssv2846191, nssv2846211, nssv2847059, nssv2846127, nssv2847121, nssv2846104, nssv2846215, nssv2847038, nssv2847044, nssv2847030, nssv2847139, nssv2846171, nssv2846146, nssv2847051, nssv2847040, nssv2847106
SamplesNA12383, NA19258, NA12717, NA21636, NA21524, NA21488, NA21423, NA18621, NA18862, NA18861, NA12273, NA18855, NA18935, NA11920, NA12344, NA12751, NA21489, NA18925, NA12146, NA18959, NA21301, NA21635, NA12750, NA12399, NA19107, NA18563, NA19127, NA19192, NA18940, NA18519, NA21359, NA19191, NA12802, NA18923, NA18547, NA18916, NA07048, NA21479, NA07347, NA18582, NA21493, NA21381, NA21365, NA19130, NA11930, NA19199, NA19123, NA18868, NA07014, NA12044, NA19235, NA19172, NA10850, NA19128, NA18990, NA19239, NA21387, NA21400, NA21344, NA18867, NA21307, NA18605, NA12760, NA19194, NA19175, NA12878, NA19184, NA18579, NA18871, NA19103, NA18572, NA18948, NA21438, NA21366, NA19208, NA19202, NA18907, NA18537, NA11919, NA19142, NA19150, NA18875, NA19181, NA19151, NA11840, NA18930, NA18857, NA19099, NA19252, NA19132, NA12778, NA10856, NA18570, NA21309, NA12546, NA19012, NA21316, NA18974, NA21608, NA18632, NA06991, NA19115, NA19256, NA19149, NA19147, NA18517, NA18863, NA19140, NA21390, NA07348, NA21388, NA12347, NA19182, NA19117, NA18501, NA18484, NA06994, NA19223, NA19178, NA07349, NA19093, NA12329, NA19185, NA19102, NA18873, NA12875, NA21384, NA18872, NA19121, NA21363, NA19129, NA11892, NA18624, NA12890, NA21487, NA12154, NA18612, NA10837, NA19214, NA18487, NA18577, NA18497, NA19237, NA19141, NA19222, NA21686, NA19186, NA21383, NA18924, NA11995, NA11829, NA12767, NA18980, NA19122, NA18917, NA19092, NA18486, NA18545, NA21648, NA12004, NA21717, NA21386, NA12248, NA19098, NA18870, NA12400, NA12341, NA19005, NA18550, NA19201, NA18489, NA21600, NA21526, NA18635, NA19198, NA18860, NA12348, NA18942, NA21401, NA19197, NA12283, NA19138, NA18498, NA06993, NA18611, NA11917, NA12005, NA21447, NA21382, NA19180, NA18874, NA06984, NA21512, NA19137, NA21453, NA21478, NA12815, NA19159, NA21716, NA19189, NA21601, NA21362, NA19209, NA21634, NA21442, NA18975, NA18908, NA12375, NA18973, NA19200, NA21494, NA12335, NA19210, NA18934, NA12343, NA18859, NA19205, NA18991, NA19236, NA18516, NA21439, NA12376, NA19097, NA18566, NA21441, NA19114, NA19118, NA18518, NA18499, NA11894, NA18856, NA19113, NA12892, NA12239, NA18853, NA19101, NA10852, NA06985, NA21583, NA19160, NA19095, NA18576, NA21302, NA18608, NA19094, NA18978, NA19206, NA19183, NA18542, NA18909, NA19108, NA12775, NA19240, NA21425, NA19100, NA19144, NA07051, NA18992, NA19193, NA18869, NA07037, NA07055, NA21513, NA18911, NA18594, NA19143, NA19109, NA19248, NA18971, NA21580, NA19173, NA18987, NA12749, NA18994, NA18500, NA12830, NA21581, NA21614, NA21486, NA19096, NA18854, NA21455, NA21312, NA18972, NA18552, NA21389, NA21303, NA21490, NA18852, NA19224, NA19146, NA19148, NA07000, NA21514, NA21440, NA18522, NA07034, NA10864
Known GenesGSTM1, GSTM2
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514002
Frequency
Sample Size2366
Observed Gain298
Observed Loss0
Observed Complex0
Frequencyn/a


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