A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv442397

Internal ID15154430
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392858..7941329hg38UCSC Ensembl
Innerchr8:7250380..7798851hg19UCSC Ensembl
Innerchr8:7237790..7836261hg18UCSC Ensembl
Innerchr8:7237790..7836261hg17UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1636466, nssv1636566, nssv1636502, nssv1636550, nssv1636481, nssv1636471, nssv1636618, nssv1636486, nssv1636480, nssv1636669, nssv1636689, nssv1636559, nssv1636470, nssv1636551, nssv1636661, nssv1636501, nssv1636582, nssv1636578, nssv1636545, nssv1636673, nssv1636665, nssv1636562, nssv1636587, nssv1636649, nssv1636660, nssv1636577, nssv1636667, nssv1636456, nssv1636513, nssv1636530, nssv1636592, nssv1636546, nssv1636604, nssv1636650, nssv1636515, nssv1636616, nssv1636631, nssv1636555, nssv1636558, nssv1636510, nssv1636490, nssv1636534, nssv1636610, nssv1636601, nssv1636477, nssv1636569, nssv1636615, nssv1636632, nssv1636664, nssv1636504, nssv1636598, nssv1636511, nssv1636527, nssv1636684, nssv1636626, nssv1636541, nssv1636478, nssv1636600, nssv1636637, nssv1636646, nssv1636565, nssv1636625, nssv1636652, nssv1636611, nssv1636620, nssv1636585, nssv1636643, nssv1636560, nssv1636602, nssv1636638, nssv1636479, nssv1636491, nssv1636458, nssv1636609, nssv1636499, nssv1636573, nssv1636614, nssv1636596, nssv1636635, nssv1636641, nssv1636465, nssv1636544, nssv1636548, nssv1636549, nssv1636485, nssv1636556, nssv1636679, nssv1636454, nssv1636690, nssv1636463, nssv1636580, nssv1636557, nssv1636531, nssv1636567, nssv1636655, nssv1636467, nssv1636493, nssv1636509, nssv1636591, nssv1636648, nssv1636663, nssv1636476, nssv1636516, nssv1636571, nssv1636589, nssv1636623, nssv1636525, nssv1636535, nssv1636482, nssv1636464, nssv1636608, nssv1636621, nssv1636633, nssv1636570, nssv1636624, nssv1636630, nssv1636645, nssv1636629, nssv1636653, nssv1636529, nssv1636475, nssv1636519, nssv1636644, nssv1636492, nssv1636593, nssv1636628, nssv1636657, nssv1636687, nssv1636681, nssv1636594, nssv1636651, nssv1636474, nssv1636547, nssv1636574, nssv1636680, nssv1636563, nssv1636619, nssv1636685, nssv1636518, nssv1636533, nssv1636536, nssv1636561, nssv1636599, nssv1636520, nssv1636459, nssv1636576, nssv1636496, nssv1636674, nssv1636505, nssv1636675, nssv1636678, nssv1636612, nssv1636468, nssv1636507, nssv1636554, nssv1636552, nssv1636682, nssv1636564, nssv1636603, nssv1636473, nssv1636627, nssv1636662, nssv1636666, nssv1636455, nssv1636537, nssv1636483, nssv1636521, nssv1636606, nssv1636461, nssv1636572, nssv1636658, nssv1636617, nssv1636484, nssv1636512, nssv1636460, nssv1636524, nssv1636489, nssv1636568, nssv1636583, nssv1636487, nssv1636647, nssv1636656, nssv1636503, nssv1636508, nssv1636622, nssv1636462, nssv1636538, nssv1636671, nssv1636639, nssv1636494, nssv1636526, nssv1636542, nssv1636514, nssv1636659, nssv1636500, nssv1636595, nssv1636686, nssv1636522, nssv1636613, nssv1636670, nssv1636495, nssv1636539, nssv1636590, nssv1636634, nssv1636642, nssv1636523, nssv1636543, nssv1636654, nssv1636688, nssv1636488, nssv1636457, nssv1636676, nssv1636532, nssv1636540, nssv1636472, nssv1636586, nssv1636588, nssv1636607, nssv1636683, nssv1636469, nssv1636497, nssv1636636, nssv1636579, nssv1636668, nssv1636597, nssv1636528, nssv1636672, nssv1636506, nssv1636553, nssv1636584, nssv1636517, nssv1636575, nssv1636581, nssv1636605, nssv1636640, nssv1636498, nssv1636677
SamplesNA10859, NA18503, NA19012, NA19137, NA10831, NA11881, NA18621, NA19207, NA18870, NA12154, 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, NA19223, NA12815, NA10847, NA18948, NA18516, NA12707, NA12813, NA06993, NA19203, NA18521, NA18953, NA18969, NA18517, NA18947, NA18542, NA07019, NA18855, NA19144, NA19210, NA07348, NA18507, NA10855, NA18860, NA18994, NA07029, NA18524, NA18965, NA18505, NA12044, NA19208, NA18506, NA18862, NA18943, NA18949, NA19143, NA10863, NA12865, NA19140, NA11882, NA19161, NA12763, NA18912, NA19211, NA18624, NA18508, NA18967, NA19239, NA12056, NA18992, NA11839, NA11840, NA07034, NA12004, NA18854, NA18566, NA11994, NA18635, NA12155, NA18576, NA18622, NA18960, NA10846, NA18563, NA07345, NA07357, NA12762, NA18990, NA18991, NA12814, NA18636, NA12740, NA18592, NA18856, NA07048, NA12761, NA18956, NA18959, NA18547, NA11831, NA18976, NA18637, NA18973, NA18593, NA12234, NA12144, NA18970, NA12751, NA12006, NA12239, NA12145, NA19153, NA18537, NA18620, NA18515, NA19129, NA19172, NA12892, NA18633, NA18572, NA19094, NA19103, NA06985, NA19206, NA18968, NA19102, NA18522, NA19238, NA19005, NA19119, NA18558, NA19098, NA19154, NA12057, NA10856, NA19139, NA12872, NA18504, NA18978, NA18564, NA18858, NA18942, NA18997, NA19221, NA18562, NA19131, NA19159, NA18579, NA18974, NA18945, NA19141, NA19145, NA11832, NA12891, NA18987, NA10851, NA18582, NA10857, NA12146, NA07055, NA19138, NA19101, NA19201, NA18995, NA06991, NA19193, NA18872, NA19128, NA12812, NA18857, NA12156, NA19116, NA10835, NA18971, NA19132, NA10830, NA18577, NA19099, NA12878, NA11830, NA12003, NA18944, NA19205, NA10838, NA18852, NA11993, NA12248, NA18571, NA18611, NA11829, NA19130, NA19240, NA12717, NA12874, NA18532, NA18853, NA19204, NA18981, NA06994, NA18913, NA12760, NA19092, NA18555, NA19007, NA19202, NA07000, NA18980, NA10854, NA10861
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B
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
Pubmed ID18776908
Accession Number(s)nsv442397
Sample Size270
Observed Gain237
Observed Loss0
Observed Complex0

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