A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442696



Internal ID15154729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:30297594..30457226hg38UCSC Ensembl
Innerchr15:30589797..30749429hg19UCSC Ensembl
Innerchr15:28377089..28536721hg18UCSC Ensembl
Innerchr15:28377089..28536721hg17UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38159633
hg19159633
hg18159633
hg17159633
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1647552, nssv1647692, nssv1647680, nssv1647688, nssv1647572, nssv1647453, nssv1647625, nssv1647538, nssv1647473, nssv1647660, nssv1647452, nssv1647506, nssv1647666, nssv1647676, nssv1647637, nssv1647643, nssv1647500, nssv1647583, nssv1647693, nssv1647460, nssv1647496, nssv1647558, nssv1647584, nssv1647481, nssv1647503, nssv1647612, nssv1647463, nssv1647611, nssv1647531, nssv1647628, nssv1647570, nssv1647597, nssv1647682, nssv1647483, nssv1647631, nssv1647605, nssv1647640, nssv1647679, nssv1647528, nssv1647490, nssv1647549, nssv1647651, nssv1647621, nssv1647626, nssv1647650, nssv1647534, nssv1647588, nssv1647595, nssv1647479, nssv1647509, nssv1647566, nssv1647589, nssv1647647, nssv1647590, nssv1647556, nssv1647585, nssv1647604, nssv1647456, nssv1647646, nssv1647458, nssv1647465, nssv1647470, nssv1647608, nssv1647681, nssv1647551, nssv1647568, nssv1647622, nssv1647609, nssv1647577, nssv1647523, nssv1647561, nssv1647709, nssv1647684, nssv1647649, nssv1647472, nssv1647537, nssv1647593, nssv1647482, nssv1647648, nssv1647529, nssv1647574, nssv1647697, nssv1647495, nssv1647662, nssv1647526, nssv1647632, nssv1647689, nssv1647698, nssv1647654, nssv1647639, nssv1647514, nssv1647613, nssv1647659, nssv1647485, nssv1647489, nssv1647548, nssv1647664, nssv1647457, nssv1647499, nssv1647675, nssv1647554, nssv1647616, nssv1647634, nssv1647546, nssv1647671, nssv1647704, nssv1647592, nssv1647711, nssv1647690, nssv1647687, nssv1647507, nssv1647527, nssv1647707, nssv1647576, nssv1647573, nssv1647511, nssv1647578, nssv1647644, nssv1647683, nssv1647579, nssv1647586, nssv1647513, nssv1647575, nssv1647545, nssv1647686, nssv1647462, nssv1647553, nssv1647598, nssv1647544, nssv1647510, nssv1647569, nssv1647530, nssv1647480, nssv1647629, nssv1647710, nssv1647668, nssv1647468, nssv1647600, nssv1647685, nssv1647478, nssv1647512, nssv1647455, nssv1647501, nssv1647502, nssv1647567, nssv1647619, nssv1647663, nssv1647475, nssv1647467, nssv1647484, nssv1647563, nssv1647670, nssv1647603, nssv1647656, nssv1647515, nssv1647542, nssv1647701, nssv1647638, nssv1647516, nssv1647633, nssv1647487, nssv1647557, nssv1647533, nssv1647459, nssv1647498, nssv1647665, nssv1647678, nssv1647565, nssv1647464, nssv1647522, nssv1647524, nssv1647560, nssv1647587, nssv1647617, nssv1647591, nssv1647461, nssv1647488, nssv1647494, nssv1647652, nssv1647669, nssv1647599, nssv1647532, nssv1647667, nssv1647699, nssv1647571, nssv1647674, nssv1647497, nssv1647543, nssv1647581, nssv1647602, nssv1647505, nssv1647635, nssv1647695, nssv1647476, nssv1647493, nssv1647555, nssv1647673, nssv1647504, nssv1647471, nssv1647519, nssv1647559, nssv1647636, nssv1647653, nssv1647541, nssv1647520, nssv1647547, nssv1647642, nssv1647550, nssv1647580, nssv1647518, nssv1647539, nssv1647694, nssv1647624, nssv1647677, nssv1647706, nssv1647696, nssv1647655, nssv1647708, nssv1647562, nssv1647610, nssv1647630, nssv1647672, nssv1647521, nssv1647641, nssv1647474, nssv1647564, nssv1647607, nssv1647623, nssv1647620, nssv1647691, nssv1647486, nssv1647658, nssv1647477, nssv1647517, nssv1647540, nssv1647596, nssv1647657, nssv1647594, nssv1647645, nssv1647615, nssv1647627, nssv1647525, nssv1647491, nssv1647535, nssv1647618, nssv1647702, nssv1647705, nssv1647536, nssv1647606, nssv1647614, nssv1647508, nssv1647703, nssv1647454, nssv1647492, nssv1647700, nssv1647582, nssv1647661, nssv1647466, nssv1647601, nssv1647469
SamplesNA10859, NA18503, NA19012, NA11881, NA18621, NA18870, NA18964, NA18863, NA19127, NA12043, NA19152, NA19194, NA12249, NA18861, NA18605, NA12750, NA18594, NA18951, NA19192, NA18914, NA18871, NA12802, NA19222, NA18561, NA12801, NA18523, NA18952, NA18975, NA07056, NA18966, NA19173, NA12752, NA12875, NA18612, NA19209, NA18501, NA19093, NA19120, NA18500, NA18526, NA10839, NA18550, NA18570, NA19003, NA12264, NA18859, NA12815, NA10847, NA18545, NA18948, NA18516, NA12707, NA12813, NA06993, NA19203, NA18521, NA18529, NA18953, NA18969, NA18972, NA18517, NA18947, NA18573, NA18608, NA18542, NA07019, NA12005, NA18855, NA19144, NA19210, NA07348, NA18507, NA10855, NA18860, NA18994, NA07029, NA18524, NA18965, NA18505, NA12044, NA19208, NA18506, NA18862, NA18943, NA18949, NA19143, NA10863, NA18632, NA12865, NA19140, NA11882, NA19161, NA12763, NA18912, NA19211, NA18998, NA18624, NA18508, NA18967, NA19239, NA12056, NA18992, NA11839, 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, NA11831, NA18976, NA18637, NA11995, NA18593, NA19100, NA12234, NA12144, NA18970, NA12751, NA12006, NA19000, NA12239, NA12145, NA19153, NA12716, NA18537, NA18620, NA18515, NA19129, NA19172, NA12892, NA18633, NA18572, NA19094, NA19103, NA06985, NA19206, NA18968, NA19102, NA18522, NA19238, NA19005, NA18502, NA19119, NA18558, NA19098, NA12057, NA10856, NA19139, NA12872, NA18504, NA18978, NA18564, NA18858, NA18942, NA18961, NA18540, NA18997, NA19221, NA18562, NA19131, NA19159, NA18579, NA18974, NA18945, NA19141, NA18940, NA19145, NA11832, NA12891, NA18987, NA10851, NA18582, NA18999, NA10857, NA12146, NA07055, NA18552, NA19138, NA10860, NA19101, NA19201, NA18995, NA06991, NA19193, NA18872, NA19128, NA12812, NA18857, NA19116, NA10835, NA18971, NA19132, NA10830, NA18577, NA19099, NA07022, NA12878, NA11830, NA12003, NA18944, NA19205, NA10838, NA18852, NA11993, NA19160, NA12248, NA18571, NA18611, NA11829, NA12236, NA19130, NA19171, NA19240, NA12717, NA12874, NA18532, NA18853, NA19204, NA18981, NA06994, NA18913, NA12760, NA19092, NA18555, NA19200, NA19007, NA19202, NA07000, NA18980, NA10854, NA10861, NA19142, NA19137
Known GenesCHRFAM7A, LOC101059918
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)nsv442696
Frequency
Sample Size270
Observed Gain260
Observed Loss0
Observed Complex0
Frequencyn/a


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