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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
nstd199 | nssv16260282 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 964595 | 964671 | Remapped | 1 | ||||||||
nstd199 | nssv16260504 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1180970 | 1181030 | Remapped | 1 | ||||||||
nstd199 | nssv16261672 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 908659 | 908714 | Remapped | 1 | ||||||||
nstd199 | nssv16261813 | duplication | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 789470 | 791836 | Remapped | 1 | ||||||||
nstd199 | nssv16262878 | insertion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1068751 | 1068751 | Remapped | 1 | ||||||||
nstd199 | nssv16264055 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1028585 | 1029012 | Remapped | 1 | ||||||||
nstd199 | nssv16264486 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 933964 | 934750 | Remapped | 1 | ||||||||
nstd199 | nssv16265252 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1226330 | 1226392 | Remapped | 1 | ||||||||
nstd199 | nssv16265578 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 831214 | 833731 | Remapped | 1 | ||||||||
nstd199 | nssv16266812 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1041701 | 1041754 | Remapped | 1 | ||||||||
nstd199 | nssv16267687 | insertion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1192546 | 1192546 | Remapped | 1 | ||||||||
nstd199 | nssv16267897 | insertion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 868469 | 868469 | Remapped | 1 | ||||||||
nstd199 | nssv16268481 | insertion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1240668 | 1240668 | Remapped | 1 | ||||||||
nstd199 | nssv16268680 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1530538 | 1530858 | Remapped | 1 | ||||||||
nstd199 | nssv16270358 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 853456 | 853554 | Remapped | 1 | ||||||||
nstd199 | nssv16270444 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1147222 | 1147295 | Remapped | 1 | ||||||||
nstd199 | nssv16270478 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1075926 | 1078540 | Remapped | 1 | ||||||||
nstd199 | nssv16271408 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1139191 | 1139801 | Remapped | 1 | ||||||||
nstd199 | nssv16271512 | insertion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 814554 | 814554 | Remapped | 1 | ||||||||
nstd199 | nssv16271941 | insertion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 904493 | 904493 | Remapped | 1 | ||||||||
nstd199 | nssv16273074 | insertion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1461598 | 1461598 | Remapped | 1 | ||||||||
nstd199 | nssv16275510 | insertion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 866644 | 866644 | Remapped | 1 | ||||||||
nstd199 | nssv16275902 | insertion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1176002 | 1176002 | Remapped | 1 | ||||||||
nstd199 | nssv16277424 | insertion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1141390 | 1141390 | Remapped | 1 | ||||||||
nstd199 | nssv16278067 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1076362 | 1076569 | Remapped | 1 | ||||||||
nstd199 | nssv16278379 | insertion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 875835 | 875835 | Remapped | 1 | ||||||||
nstd199 | nssv16279806 | insertion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 996397 | 996397 | Remapped | 1 | ||||||||
nstd199 | nssv16279944 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1349979 | 1351060 | Remapped | 1 | ||||||||
nstd199 | nssv16279985 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 936249 | 936327 | Remapped | 1 | ||||||||
nstd199 | nssv16281110 | insertion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 789470 | 789470 | Remapped | 1 | ||||||||
nstd199 | nssv16281151 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1297054 | 1297559 | Remapped | 1 | ||||||||
nstd199 | nssv16281751 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1108607 | 1108699 | Remapped | 1 | ||||||||
nstd199 | nssv16283463 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 976713 | 976826 | Remapped | 1 | ||||||||
nstd199 | nssv16286688 | insertion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 998742 | 998742 | Remapped | 1 | ||||||||
nstd199 | nssv16287766 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1227291 | 1227464 | Remapped | 1 | ||||||||
nstd199 | nssv16288485 | insertion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1477839 | 1477839 | Remapped | 1 | ||||||||
nstd199 | nssv16288751 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1064867 | 1064928 | Remapped | 1 | ||||||||
nstd199 | nssv16289824 | insertion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1134758 | 1134758 | Remapped | 1 | ||||||||
nstd199 | nssv16289965 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1248059 | 1248322 | Remapped | 1 | ||||||||
nstd199 | nssv16290623 | insertion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1293742 | 1293742 | Remapped | 1 | ||||||||
nstd199 | nssv16290706 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1207332 | 1207751 | Remapped | 1 | ||||||||
nstd199 | nssv16290834 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1080653 | 1080718 | Remapped | 1 | ||||||||
nstd199 | nssv16291365 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1288212 | 1288651 | Remapped | 1 | ||||||||
nstd199 | nssv16293022 | duplication | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 996397 | 996567 | Remapped | 1 | ||||||||
nstd199 | nssv16294183 | insertion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 820860 | 820860 | Remapped | 1 | ||||||||
nstd199 | nssv16294546 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 969970 | 970027 | Remapped | 1 | ||||||||
nstd199 | nssv16294682 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 977939 | 978000 | Remapped | 1 | ||||||||
nstd199 | nssv16296367 | insertion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1284111 | 1284111 | Remapped | 1 | ||||||||
nstd199 | nssv16296425 | deletion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1366891 | 1367056 | Remapped | 1 | ||||||||
nstd199 | nssv16296779 | insertion | 1 | Sequencing | Split read mapping | No | GRCh38.p12 | NC_000001.11 | 1 | 1324125 | 1324125 | Remapped | 1 | ||||||||
nstd199 | nsv4731862 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1075926 | 1078540 | Remapped | 1 | |||||||||||
nstd199 | nsv4732573 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1080653 | 1080718 | Remapped | 1 | |||||||||||
nstd199 | nsv4733653 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 831214 | 833731 | Remapped | 1 | |||||||||||
nstd199 | nsv4733863 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1028585 | 1029012 | Remapped | 1 | |||||||||||
nstd199 | nsv4735051 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1349979 | 1351060 | Remapped | 1 | |||||||||||
nstd199 | nsv4735099 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1147222 | 1147295 | Remapped | 1 | |||||||||||
nstd199 | nsv4735262 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1108607 | 1108699 | Remapped | 1 | |||||||||||
nstd199 | nsv4735599 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 977939 | 978000 | Remapped | 1 | |||||||||||
nstd199 | nsv4736283 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1064867 | 1064928 | Remapped | 1 | |||||||||||
nstd199 | nsv4736377 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1076362 | 1076569 | Remapped | 1 | |||||||||||
nstd199 | nsv4736661 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1207332 | 1207751 | Remapped | 1 | |||||||||||
nstd199 | nsv4736885 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 964595 | 964671 | Remapped | 1 | |||||||||||
nstd199 | nsv4738635 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 996397 | 996567 | Remapped | 1 | |||||||||||
nstd199 | nsv4740497 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1530538 | 1530858 | Remapped | 1 | |||||||||||
nstd199 | nsv4740533 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 853456 | 853554 | Remapped | 1 | |||||||||||
nstd199 | nsv4742027 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1297054 | 1297559 | Remapped | 1 | |||||||||||
nstd199 | nsv4742675 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 969970 | 970027 | Remapped | 1 | |||||||||||
nstd199 | nsv4742903 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1288212 | 1288651 | Remapped | 1 | |||||||||||
nstd199 | nsv4743989 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1139191 | 1139801 | Remapped | 1 | |||||||||||
nstd199 | nsv4744155 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 908659 | 908714 | Remapped | 1 | |||||||||||
nstd199 | nsv4744769 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1041701 | 1041754 | Remapped | 1 | |||||||||||
nstd199 | nsv4744892 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1180970 | 1181030 | Remapped | 1 | |||||||||||
nstd199 | nsv4745188 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 933964 | 934750 | Remapped | 1 | |||||||||||
nstd199 | nsv4746131 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 936249 | 936327 | Remapped | 1 | |||||||||||
nstd199 | nsv4746213 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1248059 | 1248322 | Remapped | 1 | |||||||||||
nstd199 | nsv4746970 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1226330 | 1226392 | Remapped | 1 | |||||||||||
nstd199 | nsv4747150 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1366891 | 1367056 | Remapped | 1 | |||||||||||
nstd199 | nsv4747330 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 1227291 | 1227464 | Remapped | 1 | |||||||||||
nstd199 | nsv4749486 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 789470 | 791836 | Remapped | 1 | |||||||||||
nstd199 | nsv4750201 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 976713 | 976826 | Remapped | 1 | |||||||||||
nstd199 | nsv4750433 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1240668 | 1240668 | Remapped | 1 | |||||||||||
nstd199 | nsv4751126 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 866644 | 866644 | Remapped | 1 | |||||||||||
nstd199 | nsv4751638 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1461598 | 1461598 | Remapped | 1 | |||||||||||
nstd199 | nsv4751745 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 875835 | 875835 | Remapped | 1 | |||||||||||
nstd199 | nsv4754741 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 996397 | 996397 | Remapped | 1 | |||||||||||
nstd199 | nsv4755948 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1068751 | 1068751 | Remapped | 1 | |||||||||||
nstd199 | nsv4756294 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 814554 | 814554 | Remapped | 1 | |||||||||||
nstd199 | nsv4756687 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 904493 | 904493 | Remapped | 1 | |||||||||||
nstd199 | nsv4756835 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 789470 | 789470 | Remapped | 1 | |||||||||||
nstd199 | nsv4756868 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1284111 | 1284111 | Remapped | 1 | |||||||||||
nstd199 | nsv4758557 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 868469 | 868469 | Remapped | 1 | |||||||||||
nstd199 | nsv4759396 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 998742 | 998742 | Remapped | 1 | |||||||||||
nstd199 | nsv4759643 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1134758 | 1134758 | Remapped | 1 | |||||||||||
nstd199 | nsv4760051 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1324125 | 1324125 | Remapped | 1 | |||||||||||
nstd199 | nsv4760554 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1141390 | 1141390 | Remapped | 1 | |||||||||||
nstd199 | nsv4761340 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1176002 | 1176002 | Remapped | 1 | |||||||||||
nstd199 | nsv4762699 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1477839 | 1477839 | Remapped | 1 | |||||||||||
nstd199 | nsv4765361 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1192546 | 1192546 | Remapped | 1 | |||||||||||
nstd199 | nsv4766943 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 820860 | 820860 | Remapped | 1 | |||||||||||
nstd199 | nsv4767323 | insertion | No | GRCh38.p12 | NC_000001.11 | 1 | 1293742 | 1293742 | Remapped | 1 |