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| Study ID | Variant ID | Variant Region type | Variant Call type | Sampleset ID | Method | Analysis ID | Validation | Variant samples | Subject phenotype | Clinical Interpretation | Assembly | Accession | Chr | Outer-Start | Start | Inner-Start | Inner-End | End | Outer-End | Placement Type | Remap Score |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| nstd43 | nssv1418547 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 219968663 | 219968786 | Remapped | 1 | ||||||||
| nstd43 | nssv1418549 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 22529188 | 22529492 | Remapped | 1 | ||||||||
| nstd43 | nssv1418570 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000002.12 | 2 | 2411779 | 2421091 | Remapped | 1 | ||||||||
| nstd43 | nssv1418577 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 28611675 | 28621099 | Remapped | 1 | ||||||||
| nstd43 | nssv1418594 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 78183583 | 78193905 | Remapped | 1 | ||||||||
| nstd43 | nssv1418608 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 54626536 | 54637911 | Remapped | 1 | ||||||||
| nstd43 | nssv1418613 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 105291437 | 105303017 | Remapped | 1 | ||||||||
| nstd43 | nssv1418636 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 112149512 | 112162207 | Remapped | 1 | ||||||||
| nstd43 | nssv1418638 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 187144154 | 187157545 | Remapped | 1 | ||||||||
| nstd43 | nssv1418670 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 143642859 | 143660684 | Remapped | 0.99944 | ||||||||
| nstd43 | nssv1418692 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 26800918 | 26824518 | Remapped | 1 | ||||||||
| nstd43 | nssv1418702 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 169252685 | 169278488 | Remapped | 1 | ||||||||
| nstd43 | nssv1418711 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 22984897 | 23012480 | Remapped | 1 | ||||||||
| nstd43 | nssv1418721 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 16691926 | 16727446 | Remapped | 1 | ||||||||
| nstd43 | nssv1418741 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 72300532 | 72346332 | Remapped | 1 | ||||||||
| nstd43 | nssv1418757 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 25264287 | 25337707 | Remapped | 1 | ||||||||
| nstd43 | nssv1418766 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 196747365 | 196843172 | Remapped | 1 | ||||||||
| nstd43 | nssv1418779 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 148803860 | 148930142 | Remapped | 1.001 | ||||||||
| nstd43 | nssv1418784 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 161521768 | 161662864 | Remapped | 1 | ||||||||
| nstd43 | nssv1418793 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 33559075 | 33559420 | Remapped | 1 | ||||||||
| nstd43 | nssv1418797 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 12844147 | 13087002 | Remapped | 0.90849 | ||||||||
| nstd43 | nssv1418848 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 237784391 | 237784747 | Remapped | 1 | ||||||||
| nstd43 | nssv1418885 | insertion | Sequencing | Paired-end mapping | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 22577906 | 22578002 | Remapped | 1 | ||||||||
| nstd43 | nssv1418920 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 156741918 | 156742285 | Remapped | 1 | ||||||||
| nstd43 | nssv1418936 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 52263497 | 52263898 | Remapped | 1 | ||||||||
| nstd43 | nssv1418955 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 113764244 | 113764689 | Remapped | 1 | ||||||||
| nstd43 | nssv1418957 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 204241510 | 204241960 | Remapped | 1 | ||||||||
| nstd43 | nssv1418997 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 205086869 | 205087412 | Remapped | 1 | ||||||||
| nstd43 | nssv1419005 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 181050611 | 181051174 | Remapped | 1 | ||||||||
| nstd43 | nssv1419008 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 37681570 | 37682141 | Remapped | 1 | ||||||||
| nstd43 | nssv1419024 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 231353670 | 231354282 | Remapped | 1 | ||||||||
| nstd43 | nssv1419048 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 12143521 | 12143705 | Remapped | 1 | ||||||||
| nstd43 | nssv1419058 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 74369567 | 74370261 | Remapped | 1 | ||||||||
| nstd43 | nssv1419063 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 167541553 | 167542253 | Remapped | 1 | ||||||||
| nstd43 | nssv1419064 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 26123804 | 26124506 | Remapped | 1 | ||||||||
| nstd43 | nssv1419085 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 206117089 | 206117887 | Remapped | 1 | ||||||||
| nstd43 | nssv1419115 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 198734105 | 198734304 | Remapped | 1 | ||||||||
| nstd43 | nssv1419128 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 194029908 | 194030846 | Remapped | 1 | ||||||||
| nstd43 | nssv1419139 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 232431261 | 232432235 | Remapped | 1 | ||||||||
| nstd43 | nssv1419149 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 168688979 | 168689976 | Remapped | 1 | ||||||||
| nstd43 | nssv1419163 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 59640445 | 59641503 | Remapped | 1 | ||||||||
| nstd43 | nssv1419170 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 169690753 | 169690960 | Remapped | 1 | ||||||||
| nstd43 | nssv1419171 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 159678790 | 159679891 | Remapped | 1 | ||||||||
| nstd43 | nssv1419172 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 58278223 | 58279328 | Remapped | 1 | ||||||||
| nstd43 | nssv1419185 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 220879281 | 220880430 | Remapped | 1 | ||||||||
| nstd43 | nssv1419207 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 117624851 | 117626083 | Remapped | 1 | ||||||||
| nstd43 | nssv1419229 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 109644241 | 109645544 | Remapped | 1 | ||||||||
| nstd43 | nssv1419233 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 158757050 | 158758357 | Remapped | 1 | ||||||||
| nstd43 | nssv1419235 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 39322798 | 39324116 | Remapped | 1 | ||||||||
| nstd43 | nssv1419237 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 183143215 | 183143426 | Remapped | 1 | ||||||||
| nstd43 | nssv1419252 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 58675542 | 58676929 | Remapped | 1 | ||||||||
| nstd43 | nssv1419255 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 117337858 | 117339261 | Remapped | 1 | ||||||||
| nstd43 | nssv1419276 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 160181904 | 160183404 | Remapped | 1 | ||||||||
| nstd43 | nssv1419278 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 98044332 | 98045856 | Remapped | 1 | ||||||||
| nstd43 | nssv1419289 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 198804557 | 198806152 | Remapped | 1 | ||||||||
| nstd43 | nssv1419290 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 7509758 | 7511355 | Remapped | 1 | ||||||||
| nstd43 | nssv1419293 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 205530018 | 205531638 | Remapped | 1 | ||||||||
| nstd43 | nssv1419305 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 23483147 | 23484822 | Remapped | 1 | ||||||||
| nstd43 | nssv1419344 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 58689725 | 58691583 | Remapped | 1 | ||||||||
| nstd43 | nssv1419371 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 234182053 | 234184091 | Remapped | 1 | ||||||||
| nstd43 | nssv1419389 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 113901490 | 113903616 | Remapped | 1 | ||||||||
| nstd43 | nssv1419406 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 104711377 | 104713611 | Remapped | 1 | ||||||||
| nstd43 | nssv1419433 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 158897721 | 158900201 | Remapped | 1 | ||||||||
| nstd43 | nssv1419437 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 46633687 | 46633930 | Remapped | 1 | ||||||||
| nstd43 | nssv1419438 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 61615571 | 61618065 | Remapped | 1 | ||||||||
| nstd43 | nssv1419454 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 31983642 | 31986255 | Remapped | 1 | ||||||||
| nstd43 | nssv1419460 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 233814148 | 233816809 | Remapped | 1 | ||||||||
| nstd43 | nssv1419468 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 76866037 | 76868748 | Remapped | 1 | ||||||||
| nstd43 | nssv1419473 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 14109598 | 14112335 | Remapped | 1 | ||||||||
| nstd43 | nssv1419484 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 210548855 | 210551724 | Remapped | 1 | ||||||||
| nstd43 | nssv1419486 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 40501880 | 40504750 | Remapped | 1 | ||||||||
| nstd43 | nssv1419497 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 89010401 | 89013391 | Remapped | 1 | ||||||||
| nstd43 | nssv1419512 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 38618544 | 38621678 | Remapped | 1 | ||||||||
| nstd43 | nssv1419558 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 82789080 | 82792642 | Remapped | 1 | ||||||||
| nstd43 | nssv1419577 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 84246471 | 84250237 | Remapped | 1 | ||||||||
| nstd43 | nssv1419579 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 59843387 | 59847194 | Remapped | 1 | ||||||||
| nstd43 | nssv1419580 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 226158856 | 226162695 | Remapped | 1 | ||||||||
| nstd43 | nssv1419585 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 25762451 | 25766346 | Remapped | 1 | ||||||||
| nstd43 | nssv1419596 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 108190701 | 108194669 | Remapped | 1 | ||||||||
| nstd43 | nssv1419615 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 117467446 | 117471667 | Remapped | 1 | ||||||||
| nstd43 | nssv1419631 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 194481403 | 194485761 | Remapped | 1 | ||||||||
| nstd43 | nssv1419635 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 85935032 | 85939440 | Remapped | 1 | ||||||||
| nstd43 | nssv1419637 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 23118239 | 23122680 | Remapped | 1 | ||||||||
| nstd43 | nssv1419647 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 65634515 | 65634797 | Remapped | 1 | ||||||||
| nstd43 | nssv1419677 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 62187248 | 62192304 | Remapped | 1 | ||||||||
| nstd43 | nssv1419679 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 14929766 | 14934832 | Remapped | 1 | ||||||||
| nstd43 | nssv1419696 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 235517241 | 235522500 | Remapped | 0.99829 | ||||||||
| nstd43 | nssv1419699 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 8356088 | 8361371 | Remapped | 1 | ||||||||
| nstd43 | nssv1419724 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 158991412 | 158997050 | Remapped | 1 | ||||||||
| nstd43 | nssv1419745 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 247865440 | 247871398 | Remapped | 1 | ||||||||
| nstd43 | nssv1419753 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 222201749 | 222207821 | Remapped | 1 | ||||||||
| nstd43 | nssv1419779 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 49075453 | 49081970 | Remapped | 1 | ||||||||
| nstd43 | nssv1419789 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 156760540 | 156767252 | Remapped | 1 | ||||||||
| nstd43 | nssv1419819 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 61646569 | 61653854 | Remapped | 1 | ||||||||
| nstd43 | nssv1419824 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 229676483 | 229683867 | Remapped | 1 | ||||||||
| nstd43 | nssv1419833 | copy number gain | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 169034976 | 169042583 | Remapped | 1 | ||||||||
| nstd43 | nssv1419837 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 111432982 | 111440610 | Remapped | 1 | ||||||||
| nstd43 | nssv1419841 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 28237955 | 28245721 | Remapped | 1 | ||||||||
| nstd43 | nssv1419844 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 228886946 | 228894751 | Remapped | 1 | ||||||||
| nstd43 | nssv1419865 | copy number loss | Oligo aCGH | Probe signal intensity | No | AK1 | GRCh38.p12 | NC_000001.11 | 1 | 105472522 | 105480820 | Remapped | 1 |