A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1051383



Internal ID18793914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:2136684..2148742hg38UCSC Ensembl
Innerchr12:2245850..2257908hg19UCSC Ensembl
Innerchr12:2116111..2128169hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3812059
hg1912059
hg1812059
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1340n100
Supporting Variantsnssv3711650, nssv3710856, nssv3711631, nssv3514855, nssv3516911, nssv3504393, nssv3711646, nssv3711625, nssv3513613, nssv3711602, nssv3507211, nssv3509885, nssv3710862, nssv3711634, nssv3509180, nssv3711627, nssv3520476, nssv3510861, nssv3512667, nssv3515621, nssv3711628, nssv3711639, nssv3506791, nssv3512396, nssv3513803, nssv3506857, nssv3711607, nssv3711651, nssv3515542, nssv3710844, nssv3711638, nssv3711660, nssv3514901, nssv3711641, nssv3520463, nssv3515416, nssv3522742, nssv3516605, nssv3512836, nssv3504542, nssv3521798, nssv3516020, nssv3711624, nssv3710847, nssv3514371, nssv3506356, nssv3504564, nssv3710848, nssv3711653, nssv3711604, nssv3711608, nssv3505055, nssv3511301, nssv3505835, nssv3521111, nssv3520471, nssv3508214, nssv3711623, nssv3710838, nssv3711644, nssv3710837, nssv3711647, nssv3509280, nssv3519733, nssv3508165, nssv3507415, nssv3711664, nssv3514849, nssv3516229, nssv3510549, nssv3506707, nssv3711656, nssv3711648, nssv3711618, nssv3710843, nssv3513195, nssv3512502, nssv3711636, nssv3710858, nssv3520065, nssv3711610, nssv3514392, nssv3710836, nssv3505868, nssv3711632, nssv3710842, nssv3710851, nssv3710854, nssv3505315, nssv3503987, nssv3512591, nssv3509733, nssv3711657, nssv3512268, nssv3711605, nssv3518160, nssv3508704, nssv3711630, nssv3516858, nssv3512024, nssv3510067, nssv3510728, nssv3514810, nssv3508035, nssv3520549, nssv3513529, nssv3711637, nssv3514717, nssv3512795, nssv3505515, nssv3711654, nssv3514488, nssv3710855, nssv3507388, nssv3710846, nssv3711621, nssv3519373, nssv3514942, nssv3505916, nssv3507111, nssv3511309, nssv3507271, nssv3711658, nssv3514605, nssv3710849, nssv3516355, nssv3507366, nssv3710852, nssv3711661, nssv3506056, nssv3520741, nssv3711655, nssv3711615, nssv3509352, nssv3504880, nssv3710861, nssv3520004, nssv3710850, nssv3516209, nssv3505547, nssv3511441, nssv3710860, nssv3711652, nssv3510912, nssv3506021, nssv3512451, nssv3710839, nssv3710835, nssv3711662, nssv3711663, nssv3515548, nssv3710840, nssv3519328, nssv3507110, nssv3520584, nssv3710859, nssv3514663, nssv3514976, nssv3508485, nssv3711649, nssv3710857, nssv3510068, nssv3507704, nssv3710863, nssv3514393, nssv3711617, nssv3711645, nssv3507328, nssv3511008, nssv3513058, nssv3510507, nssv3504437, nssv3517627, nssv3504847, nssv3711603, nssv3509374, nssv3511364, nssv3507958, nssv3711606, nssv3514624, nssv3519527, nssv3711626, nssv3711642, nssv3516888, nssv3512782, nssv3711659, nssv3518864, nssv3518667, nssv3518858, nssv3711620, nssv3521005, nssv3511252, nssv3522532, nssv3515307, nssv3510226, nssv3515454, nssv3516243, nssv3506939, nssv3711622, nssv3516813, nssv3711629, nssv3711609, nssv3517461, nssv3711612, nssv3710841, nssv3514892, nssv3711611, nssv3507632, nssv3711633, nssv3711635, nssv3516889, nssv3520778, nssv3512609, nssv3710853, nssv3522579, nssv3711643, nssv3711613, nssv3516181, nssv3505103, nssv3514177, nssv3507678, nssv3505752, nssv3514332, nssv3711616, nssv3514854, nssv3711614, nssv3515335, nssv3509380, nssv3711619, nssv3711640, nssv3519205, nssv3710845, nssv3516791, nssv3520600, nssv3507121, nssv3519565
Samples
Known GenesCACNA1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1051383
Frequency
Sample Size29084
Observed Gain0
Observed Loss236
Observed Complex0
Frequencyn/a


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