A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442397



Internal ID15154430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392858..7941329hg38UCSC Ensembl
Innerchr8:7250380..7798851hg19UCSC Ensembl
Innerchr8:7237790..7836261hg18UCSC Ensembl
Innerchr8:7237790..7836261hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38548472
hg19548472
hg18598472
hg17598472
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
Comments
ReferenceMcCarroll_et_al_2008
Pubmed ID18776908
Accession Number(s)nsv442397
Frequency
Sample Size270
Observed Gain237
Observed Loss0
Observed Complex0
Frequencyn/a


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