A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442978



Internal ID15501697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32463775..32605994hg38UCSC Ensembl
Innerchr6:32431552..32573771hg19UCSC Ensembl
Innerchr6:32539530..32681749hg18UCSC Ensembl
Innerchr6:32539530..32681749hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38142220
hg19142220
hg18142220
hg17142220
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1631470, nssv1631398, nssv1631253, nssv1631263, nssv1631328, nssv1631474, nssv1631472, nssv1631329, nssv1631388, nssv1631225, nssv1631478, nssv1631425, nssv1631285, nssv1631429, nssv1631230, nssv1631277, nssv1631271, nssv1631352, nssv1631447, nssv1631456, nssv1631434, nssv1631250, nssv1631326, nssv1631289, nssv1631237, nssv1631423, nssv1631337, nssv1631477, nssv1631468, nssv1631288, nssv1631345, nssv1631269, nssv1631407, nssv1631355, nssv1631264, nssv1631405, nssv1631354, nssv1631309, nssv1631321, nssv1631393, nssv1631403, nssv1631422, nssv1631296, nssv1631272, nssv1631462, nssv1631358, nssv1631390, nssv1631331, nssv1631298, nssv1631430, nssv1631420, nssv1631413, nssv1631307, nssv1631273, nssv1631411, nssv1631415, nssv1631228, nssv1631311, nssv1631233, nssv1631316, nssv1631384, nssv1631380, nssv1631396, nssv1631435, nssv1631249, nssv1631245, nssv1631450, nssv1631464, nssv1631455, nssv1631262, nssv1631232, nssv1631428, nssv1631274, nssv1631281, nssv1631243, nssv1631341, nssv1631256, nssv1631261, nssv1631419, nssv1631292, nssv1631270, nssv1631257, nssv1631467, nssv1631374, nssv1631373, nssv1631224, nssv1631313, nssv1631291, nssv1631433, nssv1631290, nssv1631372, nssv1631360, nssv1631280, nssv1631365, nssv1631412, nssv1631444, nssv1631431, nssv1631324, nssv1631246, nssv1631335, nssv1631346, nssv1631295, nssv1631449, nssv1631471, nssv1631460, nssv1631276, nssv1631463, nssv1631240, nssv1631394, nssv1631392, nssv1631312, nssv1631304, nssv1631406, nssv1631327, nssv1631299, nssv1631448, nssv1631255, nssv1631242, nssv1631222, nssv1631332, nssv1631284, nssv1631353, nssv1631442, nssv1631418, nssv1631318, nssv1631438, nssv1631279, nssv1631301, nssv1631364, nssv1631458, nssv1631382, nssv1631265, nssv1631427, nssv1631381, nssv1631338, nssv1631315, nssv1631399, nssv1631441, nssv1631436, nssv1631362, nssv1631275, nssv1631461, nssv1631459, nssv1631241, nssv1631231, nssv1631386, nssv1631344, nssv1631387, nssv1631229, nssv1631476, nssv1631475, nssv1631305, nssv1631437, nssv1631260, nssv1631294, nssv1631347, nssv1631248, nssv1631466, nssv1631453, nssv1631370, nssv1631340, nssv1631400, nssv1631367, nssv1631375, nssv1631234, nssv1631361, nssv1631343, nssv1631314, nssv1631239, nssv1631293, nssv1631235, nssv1631440, nssv1631439, nssv1631417, nssv1631414, nssv1631391, nssv1631320, nssv1631251, nssv1631446, nssv1631227, nssv1631363, nssv1631348, nssv1631244, nssv1631268, nssv1631465, nssv1631426, nssv1631252, nssv1631368, nssv1631283, nssv1631357, nssv1631323, nssv1631319, nssv1631359, nssv1631452, nssv1631339, nssv1631282, nssv1631333, nssv1631416, nssv1631322, nssv1631378, nssv1631342, nssv1631238, nssv1631350, nssv1631383, nssv1631389, nssv1631226, nssv1631443, nssv1631469, nssv1631404, nssv1631454, nssv1631356, nssv1631379, nssv1631334, nssv1631385, nssv1631308, nssv1631451, nssv1631303, nssv1631408, nssv1631336, nssv1631297, nssv1631371, nssv1631302, nssv1631445, nssv1631366, nssv1631376, nssv1631287, nssv1631310, nssv1631221, nssv1631223, nssv1631409, nssv1631401, nssv1631325, nssv1631267, nssv1631369, nssv1631259, nssv1631330, nssv1631457, nssv1631377, nssv1631410, nssv1631306, nssv1631286, nssv1631300, nssv1631473, nssv1631317, nssv1631278, nssv1631395, nssv1631266, nssv1631424, nssv1631351, nssv1631258, nssv1631421, nssv1631397, nssv1631236, nssv1631247, nssv1631432, nssv1631254, nssv1631349, nssv1631402
SamplesNA18502, NA12717, NA18621, NA19204, NA18862, NA18861, NA18508, NA10851, NA18524, NA18855, NA18999, NA12751, NA12801, NA18504, NA12146, NA18633, NA12750, NA18969, NA12813, NA18563, NA19127, NA19192, NA19171, NA18940, NA10835, NA10846, NA18995, NA10854, NA12802, NA18558, NA18547, NA18960, NA07048, NA18582, NA18571, NA12762, NA19130, NA18949, NA12156, NA19238, NA12044, NA11994, NA19207, NA19172, NA19128, NA18990, NA19239, NA18951, NA18605, NA12760, NA12752, NA19120, NA07022, NA19194, NA12878, NA19161, NA18579, NA18871, NA19103, NA18572, NA18948, NA18981, NA12234, NA19208, NA19202, NA18537, NA18573, NA19142, NA11840, NA12056, NA18912, NA19154, NA18857, NA18532, NA12145, NA19099, NA12707, NA18555, NA07345, NA12144, NA18523, NA19132, NA10856, NA18570, NA18858, NA18593, NA19012, NA18974, NA12043, NA18953, NA19003, NA18632, NA06991, NA18517, NA18863, NA18540, NA18564, NA12057, NA19140, NA18913, NA18943, NA07348, NA12763, NA18501, NA06994, NA19223, NA19211, NA19093, NA18636, NA18609, NA12875, NA19116, NA18872, NA19129, NA18968, NA18624, NA12006, NA18623, NA12154, NA18612, NA18577, NA11832, NA18620, NA18997, NA19141, NA19222, NA11830, NA19203, NA11995, NA11829, NA18592, NA12814, NA18980, NA12236, NA18561, NA18507, NA19145, NA18603, NA19092, NA18545, NA07029, NA12004, NA12248, NA10857, NA19098, NA18870, NA18526, NA12155, NA07357, NA18967, NA19005, NA18944, NA18550, NA12812, NA19201, NA19119, NA18635, NA18860, NA12891, NA19131, NA18942, NA11992, NA19138, NA18964, NA06993, NA18611, NA12761, NA18970, NA07019, NA19137, NA12815, NA19159, NA10855, NA19209, NA18975, NA18973, NA19200, NA11993, NA19007, NA11831, NA10847, NA19210, NA12753, NA12003, NA10863, NA10831, NA19152, NA12872, NA18956, NA18859, NA18515, NA19205, NA18991, NA18529, NA18516, NA18637, NA18976, NA18503, NA11839, NA19221, NA18566, NA19000, NA10830, NA18856, NA12249, NA12892, NA12239, NA18853, NA12264, NA19101, NA19160, NA18945, NA18576, NA18608, NA19094, NA18978, NA18914, NA11882, NA19206, NA18542, NA12716, NA18961, NA18952, NA12864, NA10859, NA19240, NA19100, NA19144, NA18992, NA10861, NA19193, NA12874, NA07055, NA18594, NA19143, NA12740, NA18971, NA19173, NA18987, NA18994, NA10860, NA18521, NA18500, NA18506, NA18854, NA18972, NA18552, NA18852, NA07056, NA18505, NA19139, NA07000, NA18522, NA07034, NA18622, NA19153, NA18562, NA18965
Known GenesHLA-DRB1, HLA-DRB5, HLA-DRB6
MethodSNP array
AnalysisWe used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.
Platform[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Comments
ReferenceMcCarroll_et_al_2008
Pubmed ID18776908
Accession Number(s)nsv442978
Frequency
Sample Size270
Observed Gain0
Observed Loss258
Observed Complex0
Frequencyn/a


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