A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442737



Internal ID15154770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16754017..16820986hg38UCSC Ensembl
Innerchr17:16657331..16724300hg19UCSC Ensembl
Innerchr17:16598056..16665025hg18UCSC Ensembl
Innerchr17:16598056..16665025hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3866970
hg1966970
hg1866970
hg1766970
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1650309, nssv1650322, nssv1650299, nssv1650295, nssv1650390, nssv1650403, nssv1650439, nssv1650282, nssv1650306, nssv1650316, nssv1650261, nssv1650270, nssv1650423, nssv1650393, nssv1650252, nssv1650283, nssv1650353, nssv1650371, nssv1650251, nssv1650260, nssv1650324, nssv1650278, nssv1650250, nssv1650302, nssv1650369, nssv1650442, nssv1650379, nssv1650432, nssv1650377, nssv1650284, nssv1650247, nssv1650368, nssv1650305, nssv1650333, nssv1650356, nssv1650413, nssv1650441, nssv1650350, nssv1650358, nssv1650345, nssv1650240, nssv1650249, nssv1650257, nssv1650411, nssv1650320, nssv1650343, nssv1650360, nssv1650318, nssv1650366, nssv1650383, nssv1650362, nssv1650395, nssv1650276, nssv1650417, nssv1650271, nssv1650303, nssv1650399, nssv1650378, nssv1650415, nssv1650241, nssv1650242, nssv1650286, nssv1650268, nssv1650424, nssv1650294, nssv1650426, nssv1650365, nssv1650425, nssv1650304, nssv1650327, nssv1650281, nssv1650336, nssv1650445, nssv1650433, nssv1650435, nssv1650258, nssv1650334, nssv1650279, nssv1650289, nssv1650308, nssv1650373, nssv1650385, nssv1650396, nssv1650347, nssv1650404, nssv1650290, nssv1650326, nssv1650335, nssv1650388, nssv1650238, nssv1650401, nssv1650319, nssv1650315, nssv1650342, nssv1650354, nssv1650339, nssv1650357, nssv1650408, nssv1650296, nssv1650381, nssv1650375, nssv1650273, nssv1650253, nssv1650422, nssv1650389, nssv1650332, nssv1650394, nssv1650307, nssv1650348, nssv1650292, nssv1650329, nssv1650259, nssv1650416, nssv1650274, nssv1650407, nssv1650446, nssv1650418, nssv1650321, nssv1650287, nssv1650246, nssv1650323, nssv1650243, nssv1650406, nssv1650244, nssv1650349, nssv1650398, nssv1650352, nssv1650361, nssv1650384, nssv1650239, nssv1650265, nssv1650438, nssv1650280, nssv1650331, nssv1650410, nssv1650380, nssv1650263, nssv1650387, nssv1650310, nssv1650397, nssv1650264, nssv1650277, nssv1650434, nssv1650285, nssv1650340, nssv1650312, nssv1650444, nssv1650440, nssv1650300, nssv1650317, nssv1650374, nssv1650248, nssv1650405, nssv1650427, nssv1650311, nssv1650298, nssv1650254, nssv1650428, nssv1650341, nssv1650430, nssv1650420, nssv1650266, nssv1650391, nssv1650370, nssv1650431, nssv1650355, nssv1650414, nssv1650436, nssv1650272, nssv1650338, nssv1650400, nssv1650245, nssv1650330, nssv1650386, nssv1650437, nssv1650275, nssv1650325, nssv1650412, nssv1650409, nssv1650344, nssv1650346, nssv1650359, nssv1650267, nssv1650291, nssv1650443, nssv1650429, nssv1650256, nssv1650367, nssv1650262, nssv1650301, nssv1650313, nssv1650337, nssv1650376, nssv1650351, nssv1650364, nssv1650372, nssv1650392, nssv1650382, nssv1650328, nssv1650419, nssv1650237, nssv1650269, nssv1650363, nssv1650297, nssv1650293, nssv1650421, nssv1650314, nssv1650255, nssv1650288, nssv1650402
SamplesNA10859, NA19142, NA19012, NA10831, NA11881, NA18621, NA19207, NA18870, NA18964, NA12154, NA18863, NA12043, NA12249, NA18861, NA18605, NA12750, NA18594, NA18951, NA12802, NA19222, NA18561, NA12801, NA18523, NA18952, NA18975, NA18966, NA19173, NA12875, NA18612, NA19209, NA19120, NA18500, NA18526, NA18550, NA18570, NA12264, NA18859, NA19223, NA12815, NA10847, NA18545, NA18603, NA18948, NA12707, NA12813, NA06993, NA19203, NA18521, NA18529, NA18953, NA18969, NA18947, NA18573, NA18608, NA18542, NA07019, NA12005, NA18855, NA19144, NA19210, NA07348, NA18860, NA07029, NA18524, NA18965, NA18505, NA12044, NA19208, NA18506, NA18862, NA18943, NA19143, NA10863, NA18632, NA12865, NA11882, NA19211, NA18998, NA18624, NA18508, NA12056, NA11840, NA12753, NA07034, NA12004, NA18854, NA18566, NA11994, NA18635, NA12155, NA18576, NA18622, NA18960, NA10846, NA12864, NA18563, NA07345, NA07357, NA12762, NA12873, NA18990, NA18991, NA12814, NA18636, NA12740, NA18592, NA18856, NA07048, NA12761, NA18956, NA18959, NA18609, NA18547, NA18637, NA18973, NA11995, NA18593, NA12234, NA12144, NA12751, NA19000, NA12239, NA12145, NA19153, NA12716, NA18537, NA18620, NA18515, NA19172, NA12892, NA18633, NA18572, NA19103, NA06985, NA18968, NA19102, NA18522, NA19238, NA19005, NA18502, NA18558, NA19154, NA12057, NA10856, NA12872, NA18504, NA18564, NA18942, NA18540, NA19221, NA18562, NA19131, NA19159, NA18579, NA18974, NA18945, NA19141, NA18940, NA19145, NA11832, NA12891, NA18987, NA10851, NA18582, NA18999, NA10857, NA12146, NA07055, NA18552, NA10860, NA19101, NA18995, NA06991, NA12812, NA18857, NA12156, NA19116, NA10835, NA18971, NA19132, NA10830, NA18577, NA07022, NA12878, NA11830, NA11992, NA12003, NA18944, NA19205, NA10838, NA11993, NA12248, NA18571, NA18611, NA11829, NA12236, NA12717, NA12874, NA18532, NA19204, NA18981, NA06994, NA18913, NA19092, NA18555, NA19007, NA19202, NA07000, NA18980, NA10861
Known GenesCCDC144A, FAM106CP, USP32P1
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)nsv442737
Frequency
Sample Size270
Observed Gain210
Observed Loss0
Observed Complex0
Frequencyn/a


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