nstd102 | nssv15124731 | | copy number loss | 1 | Multiple | Multiple | No | | See cases | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | | | 14874 | 7467242 | | 7467242 | Remapped | 1.00097 |
nstd102 | nssv15126343 | | copy number loss | 1 | Multiple | Multiple | No | | See cases | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | 762414 | | 762414 | 2636399 | | 2636399 | Remapped | 1.00211 |
nstd102 | nssv15127013 | | copy number loss | 1 | Multiple | Multiple | No | | See cases | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | | | 14874 | 8785327 | | 8785327 | Remapped | 1.00082 |
nstd102 | nssv15127493 | | copy number loss | 1 | Multiple | Multiple | No | | See cases | Benign | GRCh38.p12 | NC_000001.11 | 1 | | | 585989 | 714397 | | 743442 | Remapped | 0.61144 |
nstd102 | nssv15128257 | | copy number loss | 1 | Multiple | Multiple | No | | See cases | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | 778764 | | 778764 | 2950871 | | 2950871 | Remapped | 1.00874 |
nstd102 | nssv15128480 | | copy number loss | 1 | Multiple | Multiple | No | | See cases | Benign | GRCh38.p12 | NC_000001.11 | 1 | 258946 | | 258946 | 714338 | | 714338 | Remapped | 1.08164 |
nstd102 | nssv15129004 | | copy number gain | 1 | Multiple | Multiple | No | | See cases | Uncertain significance | GRCh38.p12 | NC_000001.11 | 1 | | | 14874 | 297968 | | | Remapped | 0.80018 |
nstd102 | nssv15147705 | | copy number loss | 1 | Multiple | Multiple | No | | See cases | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | | | 811228 | 14750663 | | | Remapped | 0.97271 |
nstd102 | nssv15149099 | | copy number loss | 1 | Multiple | Multiple | No | | See cases | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 12639316 | | | Remapped | 0.99524 |
nstd102 | nssv15150044 | | copy number gain | 1 | Multiple | Multiple | No | | See cases | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | | | 19225 | 4341631 | | | Remapped | 0.9863 |
nstd102 | nssv15150122 | | copy number loss | 1 | Multiple | Multiple | No | | See cases | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | | | 629044 | 3665494 | | | Remapped | 1.00624 |
nstd102 | nssv15156632 | | copy number loss | 1 | Multiple | Multiple | No | | not provided | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 1101579 | | | Remapped | 1.06768 |
nstd102 | nssv15156633 | | copy number gain | 1 | Multiple | Multiple | No | | not provided | Benign | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 1291132 | | | Remapped | 1.05647 |
nstd102 | nssv15156634 | | copy number gain | 1 | Multiple | Multiple | No | | not provided | Benign | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 1354483 | | | Remapped | 1.05351 |
nstd102 | nssv15156635 | | copy number loss | 1 | Multiple | Multiple | No | | not provided | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 3424291 | | | Remapped | 1.0256 |
nstd102 | nssv15156636 | | copy number gain | 1 | Multiple | Multiple | No | | not provided | Benign | GRCh38.p12 | NC_000001.11 | 1 | | | 99236 | 297968 | | | Remapped | 0.63842 |
nstd102 | nssv15156637 | | copy number gain | 1 | Multiple | Multiple | No | | not provided | Benign | GRCh38.p12 | NC_000001.11 | 1 | | | 611476 | 650815 | | | Remapped | 1 |
nstd102 | nssv15156638 | | copy number loss | 1 | Multiple | Multiple | No | | not provided | Benign | GRCh38.p12 | NC_000001.11 | 1 | | | 778658 | 791018 | | | Remapped | 1 |
nstd102 | nssv15156639 | | copy number loss | 1 | Multiple | Multiple | No | | not provided | Uncertain significance | GRCh38.p12 | NC_000001.11 | 1 | | | 789139 | 1229930 | | | Remapped | 1 |
nstd102 | nssv15156678 | | copy number loss | 1 | Multiple | Multiple | No | | not provided | Benign | GRCh38.p12 | NC_000001.11 | 1 | | | 47851 | 1229930 | | | Remapped | 1.05783 |
nstd102 | nssv15156679 | | copy number loss | 1 | Multiple | Multiple | No | | not provided | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | | | 47851 | 6599812 | | | Remapped | 0.99092 |
nstd102 | nssv15156680 | | copy number loss | 1 | Multiple | Multiple | No | | not provided | Benign | GRCh38.p12 | NC_000001.11 | 1 | | | 80386 | 91719 | | | Remapped | 1 |
nstd102 | nssv15156681 | | copy number gain | 1 | Multiple | Multiple | No | | not provided | Benign | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 912603 | | | Remapped | 1.08438 |
nstd102 | nssv15156682 | | copy number gain | 1 | Multiple | Multiple | No | | not provided | Benign | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 1354455 | | | Remapped | 1.05351 |
nstd102 | nssv15156683 | | copy number loss | 1 | Multiple | Multiple | No | | not provided | Benign | GRCh38.p12 | NC_000001.11 | 1 | | | 624954 | 634798 | | | Remapped | 1 |
nstd102 | nssv15156684 | | copy number gain | 1 | Multiple | Multiple | No | | not provided | Benign | GRCh38.p12 | NC_000001.11 | 1 | | | 773384 | 903723 | | | Remapped | 1 |
nstd102 | nssv15156967 | | copy number gain | 1 | Multiple | Multiple | No | | not provided | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | | | 47851 | 248934250 | | | Remapped | 0.99882 |
nstd102 | nssv15156968 | | copy number gain | 1 | Multiple | Multiple | No | | not provided | Benign | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 932255 | | | Remapped | 1.08227 |
nstd102 | nssv15156969 | | copy number loss | 1 | Multiple | Multiple | No | | not provided | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 7876212 | | | Remapped | 0.99235 |
nstd102 | nssv15156970 | | copy number gain | 1 | Multiple | Multiple | No | | not provided | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 248924793 | | | Remapped | 0.99882 |
nstd102 | nssv15169562 | | copy number gain | 1 | Multiple | Multiple | No | | not provided | Benign | GRCh38.p12 | NC_000001.11 | 1 | | | 47851 | 778658 | | | Remapped | 1.097 |
nstd102 | nssv15169563 | | copy number gain | 1 | Multiple | Multiple | No | | not provided | Benign | GRCh38.p12 | NC_000001.11 | 1 | | | 790357 | 903723 | | | Remapped | 1 |
nstd102 | nssv15169564 | | copy number gain | 1 | Multiple | Multiple | No | | not provided | Benign | GRCh38.p12 | NC_000001.11 | 1 | | | 790357 | 1099368 | | | Remapped | 1 |
nstd102 | nssv15169565 | | copy number loss | 1 | Multiple | Multiple | No | | not provided | Likely benign | GRCh38.p12 | NC_000001.11 | 1 | | | 791657 | 1431450 | | | Remapped | 1 |
nstd102 | nssv15170259 | | copy number gain | 1 | Multiple | Multiple | No | | not provided | Benign | GRCh38.p12 | NC_000001.11 | 1 | | | 817186 | 930314 | | | Remapped | 1 |
nstd102 | nssv15171013 | | copy number loss | 1 | Multiple | Multiple | No | | not provided | Benign | GRCh38.p12 | NC_000001.11 | 1 | | | 47851 | 91538 | | | Remapped | 1 |
nstd102 | nssv15171014 | | copy number gain | 1 | Multiple | Multiple | No | | not provided | Benign | GRCh38.p12 | NC_000001.11 | 1 | | | 791018 | 926428 | | | Remapped | 1 |
nstd102 | nssv15171015 | | copy number gain | 1 | Multiple | Multiple | No | | not provided | Benign | GRCh38.p12 | NC_000001.11 | 1 | | | 791101 | 818161 | | | Remapped | 1 |
nstd102 | nssv15171016 | | copy number gain | 1 | Multiple | Multiple | No | | not provided | Benign | GRCh38.p12 | NC_000001.11 | 1 | | | 791101 | 945526 | | | Remapped | 1 |
nstd102 | nssv15605943 | | copy number loss | 1 | Multiple | Multiple | No | | 1p36 deletion syndrome;CHROMOSOME 1p36 DELETION SYNDROME;Chromosome 1p36 Deletion Syndrome;Chromosome 1p36 deletion syndrome | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | | | 633328 | 3746385 | | | Remapped | 1.00608 |
nstd102 | nssv15605944 | | copy number loss | 1 | Multiple | Multiple | No | | 1p36 deletion syndrome;CHROMOSOME 1p36 DELETION SYNDROME;Chromosome 1p36 Deletion Syndrome;Chromosome 1p36 deletion syndrome | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | | | 633328 | 2636393 | | | Remapped | 1.00197 |
nstd102 | nssv15605988 | | copy number loss | 1 | Multiple | Multiple | No | | not provided | Likely pathogenic | GRCh38.p12 | NC_000001.11 | 1 | | | 633328 | 1348399 | | | Remapped | 1 |
nstd102 | nssv15755176 | | deletion | 1 | Multiple | Multiple | No | | Neurodevelopmental Disorders;Neurodevelopmental disorder | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | | 618995 | | | 9719784 | | Remapped | 0.98649 |
nstd102 | nssv15755708 | | copy number loss | 1 | Multiple | Multiple | No | | See cases | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 7577000 | | | Remapped | 0.99205 |
nstd102 | nssv15755716 | | copy number loss | 1 | Multiple | Multiple | No | | See cases | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 11724061 | | | Remapped | 0.99487 |
nstd102 | nssv15774998 | | copy number gain | 1 | Multiple | Multiple | No | | not provided | Uncertain significance | GRCh38.p12 | NC_000001.11 | 1 | | | 792351 | 2176419 | | | Remapped | 1.00286 |
nstd102 | nssv16208658 | | copy number gain | 1 | Multiple | Multiple | No | | See cases | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 3432949 | | | Remapped | 1.02554 |
nstd102 | nssv16255736 | | copy number loss | 1 | Multiple | Multiple | No | | not provided | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | | | 10001 | 5532775 | | | Remapped | 0.98747 |
nstd102 | nssv18792863 | | copy number loss | 1 | Multiple | Multiple | No | | 1p36 deletion syndrome;CHROMOSOME 1p36 DELETION SYNDROME;Chromosome 1p36 Deletion Syndrome;Chromosome 1p36 deletion syndrome | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | | | 10001 | | | 2649537 | Remapped | 1.02269 |
nstd102 | nssv18830721 | | copy number loss | 1 | Multiple | Multiple | No | | not provided | Pathogenic | GRCh38.p12 | NC_000001.11 | 1 | | | 601397 | 5952836 | | | Remapped | 0.97723 |
nstd102 | nsv3872448 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 99236 | 297968 | | | Remapped | 0.63842 |
nstd102 | nsv3872574 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 778658 | 791018 | | | Remapped | 1 |
nstd102 | nsv3872616 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 1354483 | | | Remapped | 1.05351 |
nstd102 | nsv3872668 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 789139 | 1229930 | | | Remapped | 1 |
nstd102 | nsv3872984 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 1101579 | | | Remapped | 1.06768 |
nstd102 | nsv3873030 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 811228 | 14750663 | | | Remapped | 0.97271 |
nstd102 | nsv3874222 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 611476 | 650815 | | | Remapped | 1 |
nstd102 | nsv3874379 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 791101 | 945526 | | | Remapped | 1 |
nstd102 | nsv3875326 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 1291132 | | | Remapped | 1.05647 |
nstd102 | nsv3875881 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 624954 | 634798 | | | Remapped | 1 |
nstd102 | nsv3877120 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 773384 | 903723 | | | Remapped | 1 |
nstd102 | nsv3877224 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 912603 | | | Remapped | 1.08438 |
nstd102 | nsv3877322 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 47851 | 6599812 | | | Remapped | 0.99092 |
nstd102 | nsv3877365 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 47851 | 248934250 | | | Remapped | 0.99882 |
nstd102 | nsv3877630 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 791101 | 818161 | | | Remapped | 1 |
nstd102 | nsv3878412 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 80386 | 91719 | | | Remapped | 1 |
nstd102 | nsv3878647 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 932255 | | | Remapped | 1.08227 |
nstd102 | nsv3878985 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 47851 | 1229930 | | | Remapped | 1.05783 |
nstd102 | nsv3879191 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 1354455 | | | Remapped | 1.05351 |
nstd102 | nsv3879888 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 817186 | 930314 | | | Remapped | 1 |
nstd102 | nsv3881642 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 19225 | 4341631 | | | Remapped | 0.9863 |
nstd102 | nsv3882000 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 791657 | 1431450 | | | Remapped | 1 |
nstd102 | nsv3882640 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 629044 | 3665494 | | | Remapped | 1.00624 |
nstd102 | nsv3882983 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 790357 | 903723 | | | Remapped | 1 |
nstd102 | nsv3883849 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 791018 | 926428 | | | Remapped | 1 |
nstd102 | nsv3885153 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 7876212 | | | Remapped | 0.99235 |
nstd102 | nsv3885206 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 248924793 | | | Remapped | 0.99882 |
nstd102 | nsv3886255 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 3424291 | | | Remapped | 1.0256 |
nstd102 | nsv3887654 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 47851 | 778658 | | | Remapped | 1.097 |
nstd102 | nsv3888433 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 12639316 | | | Remapped | 0.99524 |
nstd102 | nsv3889387 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 47851 | 91538 | | | Remapped | 1 |
nstd102 | nsv3889926 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 790357 | 1099368 | | | Remapped | 1 |
nstd102 | nsv3909879 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 14874 | 297968 | | | Remapped | 0.80018 |
nstd102 | nsv3913374 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 14874 | 8785327 | | 8785327 | Remapped | 1.00082 |
nstd102 | nsv3917903 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | 258946 | | 258946 | 714338 | | 714338 | Remapped | 1.08164 |
nstd102 | nsv3919515 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 585989 | 714397 | | 743442 | Remapped | 0.61144 |
nstd102 | nsv3922337 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | 762414 | | 762414 | 2636399 | | 2636399 | Remapped | 1.00211 |
nstd102 | nsv3922447 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | 778764 | | 778764 | 2950871 | | 2950871 | Remapped | 1.00874 |
nstd102 | nsv3924689 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 14874 | 7467242 | | 7467242 | Remapped | 1.00097 |
nstd102 | nsv4346794 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 633328 | 2636393 | | | Remapped | 1.00197 |
nstd102 | nsv4347035 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 633328 | 1348399 | | | Remapped | 1 |
nstd102 | nsv4347036 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 633328 | 3746385 | | | Remapped | 1.00608 |
nstd102 | nsv4435992 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 7577000 | | | Remapped | 0.99205 |
nstd102 | nsv4436105 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 11724061 | | | Remapped | 0.99487 |
nstd102 | nsv4436631 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | 618995 | | | 9719784 | | Remapped | 0.98649 |
nstd102 | nsv4452164 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 792351 | 2176419 | | | Remapped | 1.00286 |
nstd102 | nsv4674646 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 82154 | 3432949 | | | Remapped | 1.02554 |
nstd102 | nsv4728187 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 10001 | 5532775 | | | Remapped | 0.98747 |
nstd102 | nsv7099018 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 10001 | | | 2649537 | Remapped | 1.02269 |
nstd102 | nsv7137045 | copy number variation | | | | | No | | | | GRCh38.p12 | NC_000001.11 | 1 | | | 601397 | 5952836 | | | Remapped | 0.97723 |