A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514031



Internal ID15812585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196769767..196832567hg38UCSC Ensembl
Innerchr1:196738897..196801697hg19UCSC Ensembl
Innerchr1:195005520..195068320hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3862801
hg1962801
hg1862801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2855317, nssv2855344, nssv2855282, nssv2855273, nssv2855287, nssv2855256, nssv2855303, nssv2855218, nssv2855382, nssv2855321, nssv2855265, nssv2855161, nssv2855318, nssv2855335, nssv2855357, nssv2855324, nssv2855311, nssv2855367, nssv2855183, nssv2855356, nssv2855375, nssv2855264, nssv2855155, nssv2855181, nssv2855359, nssv2855325, nssv2855290, nssv2855243, nssv2855387, nssv2855389, nssv2855298, nssv2855337, nssv2855192, nssv2855391, nssv2855147, nssv2855292, nssv2855173, nssv2855297, nssv2855222, nssv2855302, nssv2855257, nssv2855351, nssv2855369, nssv2855200, nssv2855228, nssv2855201, nssv2855250, nssv2855168, nssv2855186, nssv2855312, nssv2855352, nssv2855212, nssv2855163, nssv2855235, nssv2855170, nssv2855333, nssv2855341, nssv2855307, nssv2855178, nssv2855176, nssv2855320, nssv2855252, nssv2855188, nssv2855283, nssv2855349, nssv2855231, nssv2855276, nssv2855207, nssv2855246, nssv2855371, nssv2855293, nssv2855196, nssv2855152, nssv2855219, nssv2855379, nssv2855331, nssv2855239, nssv2855272, nssv2855376, nssv2855366, nssv2855360, nssv2855385, nssv2855316, nssv2855187, nssv2855154, nssv2855267, nssv2855193, nssv2855269, nssv2855203, nssv2855236, nssv2855174, nssv2855328, nssv2855210, nssv2855329, nssv2855377, nssv2855338, nssv2855262, nssv2855322, nssv2855204, nssv2855237, nssv2855259, nssv2855374, nssv2855289, nssv2855396, nssv2855326, nssv2855315, nssv2855295, nssv2855305, nssv2855275, nssv2855220, nssv2855150, nssv2855345, nssv2855340, nssv2855214, nssv2855206, nssv2855159, nssv2855189, nssv2855358, nssv2855294, nssv2855260, nssv2855244, nssv2855395, nssv2855390, nssv2855309, nssv2855308, nssv2855388, nssv2855381, nssv2855157, nssv2855251, nssv2855336, nssv2855232, nssv2855227, nssv2855177, nssv2855242, nssv2855233, nssv2855319, nssv2855160, nssv2855213, nssv2855167, nssv2855300, nssv2855208, nssv2855175, nssv2855153, nssv2855327, nssv2855247, nssv2855263, nssv2855343, nssv2855368, nssv2855299, nssv2855291, nssv2855180, nssv2855224, nssv2855301, nssv2855274, nssv2855254, nssv2855342, nssv2855281, nssv2855363, nssv2855266, nssv2855378, nssv2855339, nssv2855238, nssv2855166, nssv2855165, nssv2855310, nssv2855280, nssv2855306, nssv2855380, nssv2855296, nssv2855158, nssv2855241, nssv2855199, nssv2855240, nssv2855197, nssv2855394, nssv2855373, nssv2855348, nssv2855284, nssv2855151, nssv2855230, nssv2855313, nssv2855392, nssv2855304, nssv2855164, nssv2855221, nssv2855361, nssv2855279, nssv2855347, nssv2855211, nssv2855185, nssv2855249, nssv2855202, nssv2855226, nssv2855364, nssv2855346, nssv2855162, nssv2855330, nssv2855332, nssv2855286, nssv2855245, nssv2855268, nssv2855288, nssv2855215, nssv2855253, nssv2855216, nssv2855217, nssv2855194, nssv2855362, nssv2855156, nssv2855354, nssv2855171, nssv2855384, nssv2855350, nssv2855229, nssv2855386, nssv2855370, nssv2855248, nssv2855334, nssv2855223, nssv2855182, nssv2855277, nssv2855285, nssv2855191, nssv2855372, nssv2855172, nssv2855198, nssv2855225, nssv2855190, nssv2855195, nssv2855383, nssv2855169, nssv2855184, nssv2855149, nssv2855323, nssv2855148, nssv2855255, nssv2855234, nssv2855205, nssv2855353, nssv2855314, nssv2855179, nssv2855365, nssv2855355, nssv2855393, nssv2855270, nssv2855209, nssv2855278, nssv2855261, nssv2855271, nssv2855258
SamplesNA19258, NA21636, NA21317, NA21524, NA21423, NA18862, NA18861, NA18508, NA10851, NA12273, NA18935, NA11920, NA21310, NA21489, NA18925, NA18504, NA12340, NA21475, NA21635, NA21522, NA18510, NA12399, NA19107, NA12813, NA18563, NA19127, NA19192, NA19171, NA18519, NA10835, NA10846, NA12336, NA18923, NA18916, NA21479, NA21381, NA21391, NA19130, NA11930, NA19123, NA12156, NA18868, NA12044, NA19235, NA19207, NA19172, NA19128, NA19239, NA10839, NA21400, NA18867, NA21307, NA21313, NA19120, NA19194, NA19175, NA19161, NA18933, NA12485, NA19184, NA18485, NA18871, NA19103, NA21438, NA12234, NA19208, NA19202, NA18907, NA18537, NA11919, NA19177, NA19142, NA19150, NA12386, NA18875, NA12829, NA11840, NA18930, NA19154, NA18857, NA19099, NA18555, NA12144, NA18523, NA19132, NA21316, NA06991, NA19115, NA19256, NA19149, NA19147, NA18517, NA18863, NA19140, NA12272, NA12763, NA19182, NA18501, NA06994, NA07435, NA19223, NA10843, NA19211, NA19093, NA18509, NA12329, NA19185, NA19102, NA18873, NA12875, NA19116, NA18872, NA19121, NA21363, NA19129, NA11892, NA12890, NA10837, NA19214, NA18487, NA11832, NA18997, NA18497, NA19237, NA19141, NA19222, NA19186, NA21383, NA18924, NA19249, NA11829, NA12236, NA19122, NA18507, NA19145, NA19092, NA18545, NA21648, NA10857, NA19190, NA19098, NA12155, NA18489, NA21600, NA19119, NA19198, NA19131, NA18942, NA21401, NA12283, NA12287, NA19138, NA18498, NA06993, NA12761, NA11917, NA21382, NA06984, NA21454, NA19137, NA21453, NA12889, NA19159, NA19189, NA21362, NA19209, NA12828, NA21442, NA18908, NA12375, NA19200, NA21494, NA12748, NA11993, NA19007, NA11831, NA19247, NA19210, NA12753, NA12343, NA19152, NA18859, NA19236, NA18516, NA21439, NA18910, NA18503, NA19097, NA11839, NA19179, NA19221, NA18566, NA21441, NA19114, NA19118, NA18518, NA18499, NA10830, NA18856, NA12249, NA19257, NA19225, NA19095, NA21302, NA18608, NA19094, NA18978, NA06995, NA11882, NA19206, NA19183, NA18909, NA11881, NA18961, NA10859, NA19174, NA21425, NA19100, NA19144, NA21615, NA10840, NA19193, NA18869, NA07037, NA21513, NA18911, NA19143, NA19109, NA19248, NA21404, NA19173, NA12749, NA18994, NA10860, NA18500, NA18506, NA21614, NA21486, NA19096, NA18854, NA18552, NA21303, NA21490, NA18852, NA07056, NA19224, NA19146, NA19148, NA18511, NA18522
Known GenesCFHR1, CFHR3
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514031
Frequency
Sample Size2366
Observed Gain0
Observed Loss250
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer