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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
nstd183 | nssv16108719 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 18888 | 35451 | Remapped | 1 | ||||||||
nstd183 | nssv16108810 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 491300 | 501567 | Remapped | 1 | ||||||||
nstd183 | nssv16108889 | deletion | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 629025 | 633377 | Remapped | 1 | ||||||||
nstd183 | nssv16109382 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 25112 | 263814 | Remapped | 1.14511 | ||||||||
nstd183 | nssv16109496 | deletion | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 635004 | 652773 | Remapped | 1 | ||||||||
nstd183 | nssv16109716 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 586033 | 587151 | Remapped | 1 | ||||||||
nstd183 | nssv16109782 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 61735 | 98602 | Remapped | 1 | ||||||||
nstd183 | nssv16109883 | deletion | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 87433 | 89163 | Remapped | 1 | ||||||||
nstd183 | nssv16110143 | deletion | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 492165 | 493035 | Remapped | 1 | ||||||||
nstd183 | nssv16110627 | deletion | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 25112 | 263814 | Remapped | 1.14511 | ||||||||
nstd183 | nssv16110694 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 651011 | 701535 | Remapped | 1 | ||||||||
nstd183 | nssv16111572 | deletion | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 136206 | 137762 | Remapped | 1 | ||||||||
nstd183 | nssv16111692 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 30322 | 35509 | Remapped | 1 | ||||||||
nstd183 | nssv16111725 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 415267 | 467960 | Remapped | 1 | ||||||||
nstd183 | nsv4578891 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 10529 | 177368 | Remapped | 1 | |||||||||||
nstd183 | nsv4579233 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 136206 | 137762 | Remapped | 1 | |||||||||||
nstd183 | nsv4579388 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 156721 | 267181 | Remapped | 1.37711 | |||||||||||
nstd183 | nsv4579952 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 18888 | 35451 | Remapped | 1 | |||||||||||
nstd183 | nsv4580501 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 257696 | 297790 | Remapped | 1 | |||||||||||
nstd183 | nsv4580988 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 30322 | 35509 | Remapped | 1 | |||||||||||
nstd183 | nsv4581068 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 25112 | 263814 | Remapped | 1.14511 | |||||||||||
nstd183 | nsv4581090 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 35462 | 35534 | Remapped | 1 | |||||||||||
nstd183 | nsv4581120 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 370101 | 374999 | Remapped | 1 | |||||||||||
nstd183 | nsv4581133 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 357922 | Remapped | 1 | |||||||||||
nstd183 | nsv4581173 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 501567 | Remapped | 1 | |||||||||||
nstd183 | nsv4581187 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 349078 | 459699 | Remapped | 1 | |||||||||||
nstd183 | nsv4581209 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 40718 | 796605 | Remapped | 1.09348 | |||||||||||
nstd183 | nsv4581231 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 586033 | 587151 | Remapped | 1 | |||||||||||
nstd183 | nsv4581233 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 592541 | 768278 | Remapped | 1 | |||||||||||
nstd183 | nsv4581242 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 611252 | 612489 | Remapped | 1 | |||||||||||
nstd183 | nsv4581248 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 629160 | 635024 | Remapped | 1 | |||||||||||
nstd183 | nsv4581249 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 629397 | 635272 | Remapped | 1 | |||||||||||
nstd183 | nsv4581251 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 635004 | 638514 | Remapped | 1 | |||||||||||
nstd183 | nsv4581268 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 683107 | 1051594 | Remapped | 1 | |||||||||||
nstd183 | nsv4581364 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 635004 | 652773 | Remapped | 1 | |||||||||||
nstd183 | nsv4581420 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 81136 | 90347 | Remapped | 1 | |||||||||||
nstd183 | nsv4581445 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 651011 | 701535 | Remapped | 1 | |||||||||||
nstd183 | nsv4581457 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 671126 | 672030 | Remapped | 1 | |||||||||||
nstd183 | nsv4581470 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 701858 | 788691 | Remapped | 1 | |||||||||||
nstd183 | nsv4581537 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 87446 | 109121 | Remapped | 1 | |||||||||||
nstd183 | nsv4581626 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 469810 | 501567 | Remapped | 1 | |||||||||||
nstd183 | nsv4581632 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 492165 | 493035 | Remapped | 1 | |||||||||||
nstd183 | nsv4581882 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 629025 | 633377 | Remapped | 1 | |||||||||||
nstd183 | nsv4581888 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 651191 | 671069 | Remapped | 1 | |||||||||||
nstd183 | nsv4581890 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 652017 | 656960 | Remapped | 1 | |||||||||||
nstd183 | nsv4582048 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 61735 | 98602 | Remapped | 1 | |||||||||||
nstd183 | nsv4582086 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 69481 | 89430 | Remapped | 1 | |||||||||||
nstd183 | nsv4583080 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 87433 | 89163 | Remapped | 1 | |||||||||||
nstd183 | nsv4593877 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 13516 | 91073 | Remapped | 1 | |||||||||||
nstd183 | nsv4594382 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 23946 | 88271 | Remapped | 1 | |||||||||||
nstd183 | nsv4594470 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 491300 | 501567 | Remapped | 1 | |||||||||||
nstd183 | nsv4594490 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 415267 | 467960 | Remapped | 1 | |||||||||||
nstd183 | nsv4594525 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 368763 | 369994 | Remapped | 1 | |||||||||||
nstd183 | nsv4594534 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 585989 | 705879 | Remapped | 0.67904 | |||||||||||
nstd183 | nsv4594536 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 350598 | Remapped | 1 | |||||||||||
nstd183 | nsv4594555 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 586249 | 646865 | Remapped | 1 | |||||||||||
nstd183 | nsv4594576 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 629879 | 876216 | Remapped | 1 | |||||||||||
nstd183 | nsv4594583 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 651191 | 656960 | Remapped | 1 | |||||||||||
nstd183 | nsv4594714 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 83177 | 92104 | Remapped | 1 | |||||||||||
nstd183 | nssv16092017 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 683107 | 1051594 | Remapped | 1 | ||||||||
nstd183 | nssv16092571 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 69481 | 89430 | Remapped | 1 | ||||||||
nstd183 | nssv16092700 | deletion | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 629879 | 876216 | Remapped | 1 | ||||||||
nstd183 | nssv16093080 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 10529 | 177368 | Remapped | 1 | ||||||||
nstd183 | nssv16093723 | deletion | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 30322 | 35509 | Remapped | 1 | ||||||||
nstd183 | nssv16093920 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 629879 | 876216 | Remapped | 1 | ||||||||
nstd183 | nssv16094539 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 592541 | 768278 | Remapped | 1 | ||||||||
nstd183 | nssv16094543 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 651191 | 671069 | Remapped | 1 | ||||||||
nstd183 | nssv16094556 | deletion | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 349078 | 459699 | Remapped | 1 | ||||||||
nstd183 | nssv16095032 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 370101 | 374999 | Remapped | 1 | ||||||||
nstd183 | nssv16095310 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 629397 | 635272 | Remapped | 1 | ||||||||
nstd183 | nssv16095560 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 35462 | 35534 | Remapped | 1 | ||||||||
nstd183 | nssv16096100 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 257696 | 297790 | Remapped | 1 | ||||||||
nstd183 | nssv16096394 | deletion | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 635004 | 638514 | Remapped | 1 | ||||||||
nstd183 | nssv16096666 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 586249 | 646865 | Remapped | 1 | ||||||||
nstd183 | nssv16096772 | deletion | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 40718 | 796605 | Remapped | 1.09348 | ||||||||
nstd183 | nssv16096859 | deletion | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 87446 | 109121 | Remapped | 1 | ||||||||
nstd183 | nssv16097217 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 651191 | 656960 | Remapped | 1 | ||||||||
nstd183 | nssv16098527 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 83177 | 92104 | Remapped | 1 | ||||||||
nstd183 | nssv16100220 | deletion | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 586249 | 646865 | Remapped | 1 | ||||||||
nstd183 | nssv16100364 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 701858 | 788691 | Remapped | 1 | ||||||||
nstd183 | nssv16100611 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 629160 | 635024 | Remapped | 1 | ||||||||
nstd183 | nssv16100621 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 652017 | 656960 | Remapped | 1 | ||||||||
nstd183 | nssv16101249 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 13516 | 91073 | Remapped | 1 | ||||||||
nstd183 | nssv16101740 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 23946 | 88271 | Remapped | 1 | ||||||||
nstd183 | nssv16102617 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 501567 | Remapped | 1 | ||||||||
nstd183 | nssv16103215 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 349078 | 459699 | Remapped | 1 | ||||||||
nstd183 | nssv16103683 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 156721 | 267181 | Remapped | 1.37711 | ||||||||
nstd183 | nssv16103700 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 357922 | Remapped | 1 | ||||||||
nstd183 | nssv16104390 | deletion | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 585989 | 705879 | Remapped | 0.67904 | ||||||||
nstd183 | nssv16104462 | deletion | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 368763 | 369994 | Remapped | 1 | ||||||||
nstd183 | nssv16104878 | deletion | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 671126 | 672030 | Remapped | 1 | ||||||||
nstd183 | nssv16104883 | deletion | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 87433 | 89163 | Remapped | 1 | ||||||||
nstd183 | nssv16105045 | deletion | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 629397 | 635272 | Remapped | 1 | ||||||||
nstd183 | nssv16105127 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 469810 | 501567 | Remapped | 1 | ||||||||
nstd183 | nssv16105641 | deletion | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 611252 | 612489 | Remapped | 1 | ||||||||
nstd183 | nssv16105710 | deletion | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 81136 | 90347 | Remapped | 1 | ||||||||
nstd183 | nssv16106542 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 40718 | 796605 | Remapped | 1.09348 | ||||||||
nstd183 | nssv16106955 | duplication | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 585989 | 705879 | Remapped | 0.67904 | ||||||||
nstd183 | nssv16107022 | deletion | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 348000 | 350598 | Remapped | 1 | ||||||||
nstd183 | nssv16108388 | deletion | 1 | Curated | Curated | No | GRCh38.p12 | NC_000001.11 | 1 | 23946 | 88271 | Remapped | 1 |