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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| nstd172 | nssv15745616 | duplication | Sequencing | Sequence alignment | No | BTQ055 | GRCh38.p12 | NC_000001.11 | 1 | 2439562 | 2440561 | Remapped | 1 | ||||||||
| nstd172 | nssv15745781 | deletion | Sequencing | Sequence alignment | No | SMI018 | GRCh38.p12 | NC_000001.11 | 1 | 1297150 | 1297743 | Remapped | 1 | ||||||||
| nstd172 | nssv15745839 | duplication | Sequencing | Sequence alignment | No | BTQ055 | GRCh38.p12 | NC_000001.11 | 1 | 1381621 | 1383620 | Remapped | 1 | ||||||||
| nstd172 | nssv15745973 | duplication | Sequencing | Sequence alignment | No | NB10 | GRCh38.p12 | NC_000001.11 | 1 | 1381621 | 1383620 | Remapped | 1 | ||||||||
| nstd172 | nssv15746320 | deletion | Sequencing | Sequence alignment | No | NB10 | GRCh38.p12 | NC_000001.11 | 1 | 1207340 | 1207760 | Remapped | 1 | ||||||||
| nstd172 | nssv15746495 | deletion | Sequencing | Sequence alignment | No | NB12 | GRCh38.p12 | NC_000001.11 | 1 | 934051 | 934908 | Remapped | 1 | ||||||||
| nstd172 | nssv15746526 | deletion | Sequencing | Sequence alignment | No | BTQ055 | GRCh38.p12 | NC_000001.11 | 1 | 1207340 | 1207760 | Remapped | 1 | ||||||||
| nstd172 | nssv15746793 | deletion | Sequencing | Sequence alignment | No | BTQ016 | GRCh38.p12 | NC_000001.11 | 1 | 7510012 | 7511466 | Remapped | 1 | ||||||||
| nstd172 | nssv15747071 | deletion | Sequencing | Sequence alignment | No | SMI041 | GRCh38.p12 | NC_000001.11 | 1 | 7510012 | 7511466 | Remapped | 1 | ||||||||
| nstd172 | nssv15747141 | deletion | Sequencing | Sequence alignment | No | NB09 | GRCh38.p12 | NC_000001.11 | 1 | 1248062 | 1248317 | Remapped | 1 | ||||||||
| nstd172 | nssv15747412 | deletion | Sequencing | Sequence alignment | No | NB09 | GRCh38.p12 | NC_000001.11 | 1 | 1030428 | 1030774 | Remapped | 1 | ||||||||
| nstd172 | nssv15747460 | deletion | Sequencing | Sequence alignment | No | NB08 | GRCh38.p12 | NC_000001.11 | 1 | 1028337 | 1030143 | Remapped | 1 | ||||||||
| nstd172 | nssv15747511 | deletion | Sequencing | Sequence alignment | No | MDQ025 | GRCh38.p12 | NC_000001.11 | 1 | 1297254 | 1297747 | Remapped | 1 | ||||||||
| nstd172 | nssv15747562 | deletion | Sequencing | Sequence alignment | No | NB07 | GRCh38.p12 | NC_000001.11 | 1 | 4220842 | 4221214 | Remapped | 1 | ||||||||
| nstd172 | nssv15747687 | duplication | Sequencing | Sequence alignment | No | NB07 | GRCh38.p12 | NC_000001.11 | 1 | 1381621 | 1383620 | Remapped | 1 | ||||||||
| nstd172 | nssv15747738 | duplication | Sequencing | Sequence alignment | No | MDQ045 | GRCh38.p12 | NC_000001.11 | 1 | 4938941 | 4939940 | Remapped | 1 | ||||||||
| nstd172 | nssv15747951 | deletion | Sequencing | Sequence alignment | No | MDQ025 | GRCh38.p12 | NC_000001.11 | 1 | 934084 | 934958 | Remapped | 1 | ||||||||
| nstd172 | nssv15748040 | duplication | Sequencing | Sequence alignment | No | NB07 | GRCh38.p12 | NC_000001.11 | 1 | 2255562 | 2256561 | Remapped | 1 | ||||||||
| nstd172 | nssv15748294 | duplication | Sequencing | Sequence alignment | No | BTQ016 | GRCh38.p12 | NC_000001.11 | 1 | 4938941 | 4939940 | Remapped | 1 | ||||||||
| nstd172 | nssv15748364 | deletion | Sequencing | Sequence alignment | No | MDQ025 | GRCh38.p12 | NC_000001.11 | 1 | 3299743 | 3300377 | Remapped | 1 | ||||||||
| nstd172 | nssv15748401 | duplication | Sequencing | Sequence alignment | No | SMI034 | GRCh38.p12 | NC_000001.11 | 1 | 1381621 | 1383620 | Remapped | 1 | ||||||||
| nstd172 | nssv15748505 | deletion | Sequencing | Sequence alignment | No | NB08 | GRCh38.p12 | NC_000001.11 | 1 | 7864931 | 7865235 | Remapped | 1 | ||||||||
| nstd172 | nssv15748626 | deletion | Sequencing | Sequence alignment | No | SMI034 | GRCh38.p12 | NC_000001.11 | 1 | 1297172 | 1297706 | Remapped | 1 | ||||||||
| nstd172 | nssv15748940 | duplication | Sequencing | Sequence alignment | No | NB11 | GRCh38.p12 | NC_000001.11 | 1 | 2439562 | 2440561 | Remapped | 1 | ||||||||
| nstd172 | nssv15749205 | deletion | Sequencing | Sequence alignment | No | NB07 | GRCh38.p12 | NC_000001.11 | 1 | 1248062 | 1248317 | Remapped | 1 | ||||||||
| nstd172 | nssv15749256 | deletion | Sequencing | Sequence alignment | No | BTQ038 | GRCh38.p12 | NC_000001.11 | 1 | 1207340 | 1207760 | Remapped | 1 | ||||||||
| nstd172 | nssv15749417 | deletion | Sequencing | Sequence alignment | No | SMI034 | GRCh38.p12 | NC_000001.11 | 1 | 7510012 | 7511466 | Remapped | 1 | ||||||||
| nstd172 | nssv15749573 | duplication | Sequencing | Sequence alignment | No | BTQ016 | GRCh38.p12 | NC_000001.11 | 1 | 1381621 | 1383620 | Remapped | 1 | ||||||||
| nstd172 | nssv15749809 | deletion | Sequencing | Sequence alignment | No | MDQ045 | GRCh38.p12 | NC_000001.11 | 1 | 4332471 | 4332927 | Remapped | 1 | ||||||||
| nstd172 | nssv15749845 | deletion | Sequencing | Sequence alignment | No | NB09 | GRCh38.p12 | NC_000001.11 | 1 | 7510012 | 7511466 | Remapped | 1 | ||||||||
| nstd172 | nssv15749931 | deletion | Sequencing | Sequence alignment | No | NB10 | GRCh38.p12 | NC_000001.11 | 1 | 7510012 | 7511466 | Remapped | 1 | ||||||||
| nstd172 | nssv15750223 | deletion | Sequencing | Sequence alignment | No | BTQ055 | GRCh38.p12 | NC_000001.11 | 1 | 934066 | 934870 | Remapped | 1 | ||||||||
| nstd172 | nssv15750280 | deletion | Sequencing | Sequence alignment | No | NB11 | GRCh38.p12 | NC_000001.11 | 1 | 7864931 | 7865450 | Remapped | 1 | ||||||||
| nstd172 | nssv15750657 | deletion | Sequencing | Sequence alignment | No | SMI034 | GRCh38.p12 | NC_000001.11 | 1 | 2459456 | 2459670 | Remapped | 1 | ||||||||
| nstd172 | nssv15751063 | duplication | Sequencing | Sequence alignment | No | NB12 | GRCh38.p12 | NC_000001.11 | 1 | 2439562 | 2440561 | Remapped | 1 | ||||||||
| nstd172 | nssv15751237 | duplication | Sequencing | Sequence alignment | No | MDQ010 | GRCh38.p12 | NC_000001.11 | 1 | 5632941 | 5634940 | Remapped | 1 | ||||||||
| nstd172 | nssv15751411 | deletion | Sequencing | Sequence alignment | No | SMI041 | GRCh38.p12 | NC_000001.11 | 1 | 1297184 | 1297726 | Remapped | 1 | ||||||||
| nstd172 | nssv15751421 | duplication | Sequencing | Sequence alignment | No | NB08 | GRCh38.p12 | NC_000001.11 | 1 | 1381621 | 1383620 | Remapped | 1 | ||||||||
| nstd172 | nssv15751569 | deletion | Sequencing | Sequence alignment | No | NB10 | GRCh38.p12 | NC_000001.11 | 1 | 4332143 | 4333426 | Remapped | 1 | ||||||||
| nstd172 | nssv15751956 | deletion | Sequencing | Sequence alignment | No | MDQ010 | GRCh38.p12 | NC_000001.11 | 1 | 1297172 | 1297680 | Remapped | 1 | ||||||||
| nstd172 | nssv15752023 | duplication | Sequencing | Sequence alignment | No | NB12 | GRCh38.p12 | NC_000001.11 | 1 | 1381621 | 1383620 | Remapped | 1 | ||||||||
| nstd172 | nssv15752080 | duplication | Sequencing | Sequence alignment | No | NB07 | GRCh38.p12 | NC_000001.11 | 1 | 2439562 | 2440561 | Remapped | 1 | ||||||||
| nstd172 | nssv15752138 | deletion | Sequencing | Sequence alignment | No | NB11 | GRCh38.p12 | NC_000001.11 | 1 | 1207340 | 1207760 | Remapped | 1 | ||||||||
| nstd172 | nssv15752191 | deletion | Sequencing | Sequence alignment | No | NB09 | GRCh38.p12 | NC_000001.11 | 1 | 7864927 | 7865229 | Remapped | 1 | ||||||||
| nstd172 | nssv15752301 | deletion | Sequencing | Sequence alignment | No | NB12 | GRCh38.p12 | NC_000001.11 | 1 | 1207340 | 1207760 | Remapped | 1 | ||||||||
| nstd172 | nssv15752347 | duplication | Sequencing | Sequence alignment | No | MDQ010 | GRCh38.p12 | NC_000001.11 | 1 | 4494941 | 4496940 | Remapped | 1 | ||||||||
| nstd172 | nssv15752529 | duplication | Sequencing | Sequence alignment | No | SMI034 | GRCh38.p12 | NC_000001.11 | 1 | 2439562 | 2440561 | Remapped | 1 | ||||||||
| nstd172 | nssv15752557 | deletion | Sequencing | Sequence alignment | No | NB08 | GRCh38.p12 | NC_000001.11 | 1 | 7510012 | 7511466 | Remapped | 1 | ||||||||
| nstd172 | nssv15752790 | deletion | Sequencing | Sequence alignment | No | BTQ016 | GRCh38.p12 | NC_000001.11 | 1 | 1297180 | 1297710 | Remapped | 1 | ||||||||
| nstd172 | nssv15753100 | duplication | Sequencing | Sequence alignment | No | MDQ010 | GRCh38.p12 | NC_000001.11 | 1 | 4426941 | 4428940 | Remapped | 1 | ||||||||
| nstd172 | nssv15753301 | deletion | Sequencing | Sequence alignment | No | NB11 | GRCh38.p12 | NC_000001.11 | 1 | 1028565 | 1029365 | Remapped | 1 | ||||||||
| nstd172 | nssv15753408 | deletion | Sequencing | Sequence alignment | No | NB12 | GRCh38.p12 | NC_000001.11 | 1 | 7864931 | 7865228 | Remapped | 1 | ||||||||
| nstd172 | nssv15753510 | deletion | Sequencing | Sequence alignment | No | MDQ045 | GRCh38.p12 | NC_000001.11 | 1 | 934070 | 934912 | Remapped | 1 | ||||||||
| nstd172 | nssv15753527 | deletion | Sequencing | Sequence alignment | No | SMI018 | GRCh38.p12 | NC_000001.11 | 1 | 1207340 | 1207760 | Remapped | 1 | ||||||||
| nstd172 | nssv15753585 | deletion | Sequencing | Sequence alignment | No | NB07 | GRCh38.p12 | NC_000001.11 | 1 | 2280679 | 2281918 | Remapped | 1 | ||||||||
| nstd172 | nssv15753732 | deletion | Sequencing | Sequence alignment | No | NB10 | GRCh38.p12 | NC_000001.11 | 1 | 2634725 | 2635143 | Remapped | 1 | ||||||||
| nstd172 | nssv15753917 | deletion | Sequencing | Sequence alignment | No | NB07 | GRCh38.p12 | NC_000001.11 | 1 | 1028337 | 1030143 | Remapped | 1 | ||||||||
| nstd172 | nssv15753993 | duplication | Sequencing | Sequence alignment | No | NB11 | GRCh38.p12 | NC_000001.11 | 1 | 1381621 | 1383620 | Remapped | 1 | ||||||||
| nstd172 | nssv15754135 | duplication | Sequencing | Sequence alignment | No | NB10 | GRCh38.p12 | NC_000001.11 | 1 | 2439562 | 2440561 | Remapped | 1 | ||||||||
| nstd172 | nssv15754138 | deletion | Sequencing | Sequence alignment | No | SMI034 | GRCh38.p12 | NC_000001.11 | 1 | 3165548 | 3165981 | Remapped | 1 | ||||||||
| nstd172 | nssv15754299 | deletion | Sequencing | Sequence alignment | No | SMI041 | GRCh38.p12 | NC_000001.11 | 1 | 1207340 | 1207760 | Remapped | 1 | ||||||||
| nstd172 | nssv15754515 | duplication | Sequencing | Sequence alignment | No | BTQ038 | GRCh38.p12 | NC_000001.11 | 1 | 1381621 | 1383620 | Remapped | 1 | ||||||||
| nstd172 | nssv15754604 | deletion | Sequencing | Sequence alignment | No | NB10 | GRCh38.p12 | NC_000001.11 | 1 | 1297338 | 1297717 | Remapped | 1 | ||||||||
| nstd172 | nssv15754618 | duplication | Sequencing | Sequence alignment | No | SMI018 | GRCh38.p12 | NC_000001.11 | 1 | 2439562 | 2440561 | Remapped | 1 | ||||||||
| nstd172 | nsv4432928 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1207340 | 1207760 | Remapped | 1 | |||||||||||
| nstd172 | nsv4432932 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1248062 | 1248317 | Remapped | 1 | |||||||||||
| nstd172 | nsv4432935 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1297150 | 1297743 | Remapped | 1 | |||||||||||
| nstd172 | nsv4432936 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1297172 | 1297680 | Remapped | 1 | |||||||||||
| nstd172 | nsv4432937 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1297172 | 1297706 | Remapped | 1 | |||||||||||
| nstd172 | nsv4432938 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1297180 | 1297710 | Remapped | 1 | |||||||||||
| nstd172 | nsv4432939 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1297184 | 1297726 | Remapped | 1 | |||||||||||
| nstd172 | nsv4432940 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1297254 | 1297747 | Remapped | 1 | |||||||||||
| nstd172 | nsv4432941 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1297338 | 1297717 | Remapped | 1 | |||||||||||
| nstd172 | nsv4432942 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1381621 | 1383620 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433037 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2255562 | 2256561 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433040 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2280679 | 2281918 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433075 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2439562 | 2440561 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433078 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2459456 | 2459670 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433107 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 2634725 | 2635143 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433112 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3165548 | 3165981 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433114 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 3299743 | 3300377 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433130 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4220842 | 4221214 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433133 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4332143 | 4333426 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433134 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4332471 | 4332927 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433135 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4426941 | 4428940 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433136 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4494941 | 4496940 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433137 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 4938941 | 4939940 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433144 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 5632941 | 5634940 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433171 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 7510012 | 7511466 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433173 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 7864927 | 7865229 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433174 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 7864931 | 7865228 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433175 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 7864931 | 7865235 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433176 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 7864931 | 7865450 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433185 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 934051 | 934908 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433186 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 934066 | 934870 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433187 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 934070 | 934912 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433188 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 934084 | 934958 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433201 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1028337 | 1030143 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433202 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1028565 | 1029365 | Remapped | 1 | |||||||||||
| nstd172 | nsv4433203 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1030428 | 1030774 | Remapped | 1 |