A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514684



Internal ID15466318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99400315..99402283hg38UCSC Ensembl
Innerchr12:99794093..99796061hg19UCSC Ensembl
Innerchr12:98318224..98320192hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381969
hg191969
hg181969
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2794822, nssv2793740, nssv2798070, nssv2790988, nssv2792665, nssv2794444, nssv2794739, nssv2793466, nssv2791313, nssv2795693, nssv2790451, nssv2798181, nssv2794398, nssv2793298, nssv2789996, nssv2796262, nssv2789069, nssv2791794, nssv2791040, nssv2791296, nssv2790841, nssv2794432, nssv2790467, nssv2795416, nssv2798170, nssv2790704, nssv2797161, nssv2798113, nssv2790648, nssv2791896, nssv2796868, nssv2797525, nssv2792173, nssv2797299, nssv2793223, nssv2794616, nssv2793282, nssv2790840, nssv2797055, nssv2796570, nssv2794270, nssv2792197, nssv2798260, nssv2794129, nssv2794090, nssv2794988, nssv2793986, nssv2794174, nssv2797544, nssv2791914, nssv2796434, nssv2790825, nssv2798329, nssv2794510, nssv2789965, nssv2792903, nssv2792597, nssv2795489, nssv2794201, nssv2792370, nssv2790741, nssv2791341, nssv2794987, nssv2793537, nssv2798336, nssv2793762, nssv2796751, nssv2790475, nssv2790545, nssv2790755, nssv2793547, nssv2793307, nssv2790983, nssv2792026, nssv2795487, nssv2791800, nssv2792184, nssv2794781, nssv2790327, nssv2798252, nssv2798385, nssv2793031, nssv2798042, nssv2798182, nssv2794544, nssv2791599, nssv2798446, nssv2792494, nssv2795814, nssv2795607, nssv2788519, nssv2788769, nssv2789652, nssv2789085, nssv2789924, nssv2789847, nssv2792230, nssv2790113, nssv2797472, nssv2793927, nssv2794747, nssv2796310, nssv2796265, nssv2793379, nssv2790653, nssv2798191, nssv2795783, nssv2795488, nssv2793142, nssv2797549, nssv2796213, nssv2789831, nssv2791171, nssv2792001, nssv2793199, nssv2794532, nssv2790885, nssv2796068, nssv2793214
SamplesNA07435, NA12767, NA19146, NA18870, NA19248, NA18863, NA19194, NA18861, NA21438, NA12750, NA19214, NA21441, NA19192, NA18871, NA19222, NA12875, NA19209, NA18501, NA19120, NA18500, NA21307, NA19149, NA21404, NA19191, NA21600, NA18859, NA19223, NA06989, NA21718, NA18516, NA19109, NA21403, NA21479, NA18484, NA19210, NA12058, NA18860, NA12776, NA07051, NA21454, NA19257, NA19108, NA21361, NA19180, NA12414, NA11882, NA19161, NA19211, NA12843, NA18934, NA12004, NA12336, NA21716, NA10846, NA12343, NA18856, NA19096, NA21363, NA21453, NA18497, NA12329, NA18485, NA12777, NA21399, NA12144, NA19190, NA21442, NA18518, NA12892, NA12778, NA21717, NA18498, NA18486, NA19119, NA12485, NA21382, NA21648, NA12872, NA19175, NA21485, NA18487, NA18925, NA19221, NA12283, NA19131, NA19159, NA18910, NA21401, NA19235, NA19258, NA19138, NA12749, NA06984, NA21601, NA18872, NA06995, NA21360, NA19097, NA19132, NA21383, NA07022, NA12878, NA19205, NA10838, NA12399, NA12248, NA18924, NA19179, NA19204, NA18935, NA21614, NA18908, NA19249, NA21391, NA12274, NA19200, NA18519, NA19202, NA07031
Known GenesANKS1B
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514684
Frequency
Sample Size2366
Observed Gain0
Observed Loss119
Observed Complex0
Frequencyn/a


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