A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514129



Internal ID15812473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:189239..192445hg38UCSC Ensembl
Innerchr3:230922..234128hg19UCSC Ensembl
Innerchr3:205922..209128hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg383207
hg193207
hg183207
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2898031, nssv2898178, nssv2898048, nssv2898080, nssv2897606, nssv2898144, nssv2898100, nssv2898194, nssv2897647, nssv2898103, nssv2898066, nssv2898102, nssv2898177, nssv2897608, nssv2897623, nssv2898148, nssv2898065, nssv2898160, nssv2897649, nssv2898174, nssv2898168, nssv2898140, nssv2898158, nssv2898151, nssv2898086, nssv2898109, nssv2898113, nssv2897655, nssv2897621, nssv2898184, nssv2898105, nssv2898068, nssv2898122, nssv2898120, nssv2898133, nssv2898191, nssv2898153, nssv2897611, nssv2898064, nssv2898125, nssv2898094, nssv2898039, nssv2898163, nssv2897659, nssv2898069, nssv2898107, nssv2898034, nssv2897644, nssv2898051, nssv2897645, nssv2898161, nssv2897637, nssv2897625, nssv2898181, nssv2898082, nssv2898169, nssv2898078, nssv2897624, nssv2897612, nssv2897619, nssv2898038, nssv2897616, nssv2897614, nssv2898054, nssv2897656, nssv2898046, nssv2898052, nssv2898091, nssv2898033, nssv2898188, nssv2897613, nssv2898182, nssv2898172, nssv2897627, nssv2898129, nssv2898088, nssv2898093, nssv2897639, nssv2898087, nssv2897652, nssv2898118, nssv2898138, nssv2898119, nssv2897632, nssv2897618, nssv2898106, nssv2898045, nssv2897620, nssv2898032, nssv2898115, nssv2898108, nssv2897651, nssv2898141, nssv2898077, nssv2898076, nssv2897628, nssv2898061, nssv2898050, nssv2897609, nssv2898127, nssv2898143, nssv2898124, nssv2898111, nssv2898152, nssv2898072, nssv2898044, nssv2898067, nssv2897633, nssv2898171, nssv2898092, nssv2898074, nssv2897654, nssv2898170, nssv2898035, nssv2898149, nssv2898142, nssv2898070, nssv2897631, nssv2898179, nssv2898116, nssv2898040, nssv2898136, nssv2898098, nssv2897657, nssv2898193, nssv2898180, nssv2898083, nssv2897630, nssv2898139, nssv2898060, nssv2898128, nssv2898084, nssv2898042, nssv2898146, nssv2898130, nssv2898189, nssv2898185, nssv2898101, nssv2898057, nssv2898195, nssv2898043, nssv2897658, nssv2898165, nssv2898134, nssv2897635, nssv2898114, nssv2898154, nssv2897638, nssv2898062, nssv2898081, nssv2897641, nssv2898055, nssv2897610, nssv2898176, nssv2898150, nssv2898096, nssv2898187, nssv2898162, nssv2898123, nssv2898079, nssv2898192, nssv2898089, nssv2898155, nssv2898126, nssv2898058, nssv2898037, nssv2897643, nssv2897629, nssv2898173, nssv2898137, nssv2898071, nssv2897622, nssv2898145, nssv2897648, nssv2898030, nssv2898186, nssv2897646, nssv2898147, nssv2898036, nssv2897653, nssv2898167, nssv2898131, nssv2898095, nssv2898183, nssv2898085, nssv2897615, nssv2898190, nssv2898121, nssv2897636, nssv2898110, nssv2898112, nssv2898117, nssv2898041, nssv2898049, nssv2897626, nssv2898132, nssv2898164, nssv2897642, nssv2898063, nssv2898029, nssv2897650, nssv2898059, nssv2897607, nssv2897640, nssv2897634, nssv2898157, nssv2898104, nssv2898053, nssv2898099, nssv2898166, nssv2898159, nssv2898156, nssv2898047, nssv2898175, nssv2898097, nssv2898075, nssv2897617, nssv2898073, nssv2898135, nssv2898090, nssv2898056
SamplesNA21403, NA18998, NA18497, NA12717, NA19222, NA21636, NA21686, NA21317, NA21477, NA21524, NA19249, NA11995, NA11829, NA18861, NA10851, NA12767, NA12414, NA18980, NA18855, NA21476, NA21399, NA21310, NA18999, NA12045, NA18545, NA21489, NA21648, NA21386, NA12340, NA12058, NA21475, NA10857, NA21301, NA21635, NA19190, NA18633, NA18510, NA12750, NA07357, NA18969, NA18967, NA18563, NA19192, NA19005, NA18550, NA21359, NA18489, NA18995, NA19191, NA12802, NA18635, NA19198, NA12891, NA18547, NA12348, NA19131, NA18960, NA18942, NA18916, NA21401, NA19197, NA18582, NA12283, NA18571, NA19138, NA18498, NA21365, NA18964, NA19130, NA18949, NA18611, NA11917, NA12282, NA12275, NA19199, NA19180, NA06984, NA21454, NA12044, NA10850, NA12815, NA19159, NA21716, NA19189, NA19209, NA12828, NA21387, NA18908, NA18973, NA18867, NA19200, NA12748, NA11993, NA19007, NA10847, NA21599, NA12335, NA19247, NA07022, NA19194, NA12753, NA19175, NA19152, NA12878, NA19161, NA18933, NA12485, NA18956, NA18859, NA18485, NA19236, NA18516, NA18579, NA12718, NA18910, NA18871, NA18572, NA18948, NA19097, NA21438, NA21366, NA12234, NA19221, NA19202, NA18907, NA18573, NA12818, NA11919, NA19142, NA19118, NA19000, NA19150, NA18875, NA18499, NA11840, NA18856, NA12056, NA12892, NA18857, NA18532, NA12239, NA12145, NA18555, NA12144, NA19132, NA19095, NA12778, NA21309, NA18593, NA18945, NA21316, NA18576, NA12043, NA21608, NA18953, NA18632, NA11882, NA18542, NA18909, NA19108, NA18961, NA19149, NA18517, NA18564, NA19140, NA19174, NA12873, NA21718, NA21390, NA19193, NA18869, NA07348, NA21388, NA12763, NA21361, NA07055, NA21513, NA18911, NA06986, NA18594, NA12708, NA12740, NA06994, NA19109, NA19248, NA18971, NA21404, NA19178, NA18987, NA19211, NA18994, NA10860, NA18636, NA18509, NA12830, NA12329, NA19185, NA18609, NA21581, NA18873, NA12875, NA21614, NA21486, NA19096, NA21455, NA21384, NA21312, NA18972, NA18872, NA18552, NA21490, NA07056, NA21363, NA19146, NA18488, NA07000, NA18522, NA12154, NA18612, NA18622, NA18965
Known Genes
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514129
Frequency
Sample Size2366
Observed Gain0
Observed Loss221
Observed Complex0
Frequencyn/a


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