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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| nstd206 | nssv16889289 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 351968 | 358300 | Submitted genomic | |||||||||
| nstd206 | nssv16889289 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 351968 | 358300 | Submitted genomic | |||||||||
| nstd206 | nssv16889290 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 10000 | 52000 | Submitted genomic | |||||||||
| nstd206 | nssv16889290 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 10000 | 52000 | Submitted genomic | |||||||||
| nstd206 | nssv16889905 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1028525 | 1028545 | 1028612 | 1029074 | 1029094 | 1029114 | Submitted genomic | |||||
| nstd206 | nssv16889905 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1028525 | 1028545 | 1028612 | 1029074 | 1029094 | 1029114 | Submitted genomic | |||||
| nstd206 | nssv16889944 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1029550 | 1029628 | 1029721 | 1029856 | 1029968 | 1030038 | Submitted genomic | |||||
| nstd206 | nssv16889944 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1029550 | 1029628 | 1029721 | 1029856 | 1029968 | 1030038 | Submitted genomic | |||||
| nstd206 | nssv16890000 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1060224 | 1060357 | Submitted genomic | |||||||||
| nstd206 | nssv16890000 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1060224 | 1060357 | Submitted genomic | |||||||||
| nstd206 | nssv16890001 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1068732 | 1068834 | Submitted genomic | |||||||||
| nstd206 | nssv16890001 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1068732 | 1068834 | Submitted genomic | |||||||||
| nstd206 | nssv16890092 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1084112 | 1084439 | Submitted genomic | |||||||||
| nstd206 | nssv16890092 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1084112 | 1084439 | Submitted genomic | |||||||||
| nstd206 | nssv16890175 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 452000 | 458000 | Submitted genomic | |||||||||
| nstd206 | nssv16890175 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 452000 | 458000 | Submitted genomic | |||||||||
| nstd206 | nssv16890478 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 453000 | 458600 | Submitted genomic | |||||||||
| nstd206 | nssv16890478 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 453000 | 458600 | Submitted genomic | |||||||||
| nstd206 | nssv16891109 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1098995 | 1099016 | 1099025 | 1099889 | 1099903 | 1099955 | Submitted genomic | |||||
| nstd206 | nssv16891109 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1098995 | 1099016 | 1099025 | 1099889 | 1099903 | 1099955 | Submitted genomic | |||||
| nstd206 | nssv16891165 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1099250 | 1099749 | Submitted genomic | |||||||||
| nstd206 | nssv16891165 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1099250 | 1099749 | Submitted genomic | |||||||||
| nstd206 | nssv16891166 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1108212 | 1108232 | 1108252 | 1108672 | 1108692 | 1108712 | Submitted genomic | |||||
| nstd206 | nssv16891166 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1108212 | 1108232 | 1108252 | 1108672 | 1108692 | 1108712 | Submitted genomic | |||||
| nstd206 | nssv16891218 | insertion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1110591 | 1110617 | Submitted genomic | |||||||||
| nstd206 | nssv16891218 | insertion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1110591 | 1110617 | Submitted genomic | |||||||||
| nstd206 | nssv16891229 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1110832 | 1119913 | Submitted genomic | |||||||||
| nstd206 | nssv16891229 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1110832 | 1119913 | Submitted genomic | |||||||||
| nstd206 | nssv16891299 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1123513 | 1123533 | 1123553 | 1123578 | 1123583 | 1123603 | Submitted genomic | |||||
| nstd206 | nssv16891299 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1123513 | 1123533 | 1123553 | 1123578 | 1123583 | 1123603 | Submitted genomic | |||||
| nstd206 | nssv16891345 | insertion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1124043 | 1124046 | Submitted genomic | |||||||||
| nstd206 | nssv16891345 | insertion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1124043 | 1124046 | Submitted genomic | |||||||||
| nstd206 | nssv16891386 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1133932 | 1138406 | Submitted genomic | |||||||||
| nstd206 | nssv16891386 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1133932 | 1138406 | Submitted genomic | |||||||||
| nstd206 | nssv16891395 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1134549 | 1134673 | Submitted genomic | |||||||||
| nstd206 | nssv16891395 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1134549 | 1134673 | Submitted genomic | |||||||||
| nstd206 | nssv16891639 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 456234 | 467000 | Submitted genomic | |||||||||
| nstd206 | nssv16891639 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 456234 | 467000 | Submitted genomic | |||||||||
| nstd206 | nssv16892052 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1134571 | 1135362 | Submitted genomic | |||||||||
| nstd206 | nssv16892052 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1134571 | 1135362 | Submitted genomic | |||||||||
| nstd206 | nssv16892053 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1134739 | 1134842 | Submitted genomic | |||||||||
| nstd206 | nssv16892053 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1134739 | 1134842 | Submitted genomic | |||||||||
| nstd206 | nssv16892074 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1134839 | 1135354 | Submitted genomic | |||||||||
| nstd206 | nssv16892074 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1134839 | 1135354 | Submitted genomic | |||||||||
| nstd206 | nssv16892133 | insertion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1134857 | 1134862 | Submitted genomic | |||||||||
| nstd206 | nssv16892133 | insertion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1134857 | 1134862 | Submitted genomic | |||||||||
| nstd206 | nssv16892170 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1141147 | 1143332 | Submitted genomic | |||||||||
| nstd206 | nssv16892170 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1141147 | 1143332 | Submitted genomic | |||||||||
| nstd206 | nssv16892250 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1141434 | 1141537 | Submitted genomic | |||||||||
| nstd206 | nssv16892250 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1141434 | 1141537 | Submitted genomic | |||||||||
| nstd206 | nssv16892251 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1149937 | 1154604 | Submitted genomic | |||||||||
| nstd206 | nssv16892251 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1149937 | 1154604 | Submitted genomic | |||||||||
| nstd206 | nssv16892314 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1151421 | 1151441 | 1151461 | 1151623 | 1151643 | 1151663 | Submitted genomic | |||||
| nstd206 | nssv16892314 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1151421 | 1151441 | 1151461 | 1151623 | 1151643 | 1151663 | Submitted genomic | |||||
| nstd206 | nssv16892328 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1164215 | 1164761 | Submitted genomic | |||||||||
| nstd206 | nssv16892328 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1164215 | 1164761 | Submitted genomic | |||||||||
| nstd206 | nssv16892908 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 460000 | 466000 | Submitted genomic | |||||||||
| nstd206 | nssv16892908 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 460000 | 466000 | Submitted genomic | |||||||||
| nstd206 | nssv16893280 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1188171 | 1188221 | Submitted genomic | |||||||||
| nstd206 | nssv16893280 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1188171 | 1188221 | Submitted genomic | |||||||||
| nstd206 | nssv16893334 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1201813 | 1202690 | Submitted genomic | |||||||||
| nstd206 | nssv16893334 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1201813 | 1202690 | Submitted genomic | |||||||||
| nstd206 | nssv16893335 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1207339 | 1207760 | Submitted genomic | |||||||||
| nstd206 | nssv16893335 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1207339 | 1207760 | Submitted genomic | |||||||||
| nstd206 | nssv16893376 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1225673 | 1226358 | Submitted genomic | |||||||||
| nstd206 | nssv16893376 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1225673 | 1226358 | Submitted genomic | |||||||||
| nstd206 | nssv16893377 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1227243 | 1227325 | 1227389 | 1227359 | 1227457 | 1227477 | Submitted genomic | |||||
| nstd206 | nssv16893377 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1227243 | 1227325 | 1227389 | 1227359 | 1227457 | 1227477 | Submitted genomic | |||||
| nstd206 | nssv16893378 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1240648 | 1240700 | Submitted genomic | |||||||||
| nstd206 | nssv16893378 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1240648 | 1240700 | Submitted genomic | |||||||||
| nstd206 | nssv16893461 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1248061 | 1248317 | Submitted genomic | |||||||||
| nstd206 | nssv16893461 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 1248061 | 1248317 | Submitted genomic | |||||||||
| nstd206 | nssv16894138 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 495000 | 514968 | Submitted genomic | |||||||||
| nstd206 | nssv16894138 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 495000 | 514968 | Submitted genomic | |||||||||
| nstd206 | nssv16895316 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 501968 | 517000 | Submitted genomic | |||||||||
| nstd206 | nssv16895316 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 501968 | 517000 | Submitted genomic | |||||||||
| nstd206 | nssv16896780 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 501968 | 535000 | Submitted genomic | |||||||||
| nstd206 | nssv16896780 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 501968 | 535000 | Submitted genomic | |||||||||
| nstd206 | nssv16896940 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 523968 | 529968 | Submitted genomic | |||||||||
| nstd206 | nssv16896940 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 523968 | 529968 | Submitted genomic | |||||||||
| nstd206 | nssv16898147 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 523968 | 531968 | Submitted genomic | |||||||||
| nstd206 | nssv16898147 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 523968 | 531968 | Submitted genomic | |||||||||
| nstd206 | nssv16899259 | copy number variation | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 28000 | 140000 | Submitted genomic | |||||||||
| nstd206 | nssv16899259 | copy number variation | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 28000 | 140000 | Submitted genomic | |||||||||
| nstd206 | nssv16899337 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 586000 | 621494 | Submitted genomic | |||||||||
| nstd206 | nssv16899337 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 586000 | 621494 | Submitted genomic | |||||||||
| nstd206 | nssv16899351 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 586988 | 670994 | Submitted genomic | |||||||||
| nstd206 | nssv16899351 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 586988 | 670994 | Submitted genomic | |||||||||
| nstd206 | nssv16899405 | insertion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 595456 | 595507 | Submitted genomic | |||||||||
| nstd206 | nssv16899405 | insertion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 595456 | 595507 | Submitted genomic | |||||||||
| nstd206 | nssv16899413 | copy number variation | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 628900 | 635988 | Submitted genomic | |||||||||
| nstd206 | nssv16899413 | copy number variation | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 628900 | 635988 | Submitted genomic | |||||||||
| nstd206 | nssv16900381 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 666500 | 687000 | Submitted genomic | |||||||||
| nstd206 | nssv16900381 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 666500 | 687000 | Submitted genomic | |||||||||
| nstd206 | nssv16900384 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 687988 | 695988 | Submitted genomic | |||||||||
| nstd206 | nssv16900384 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 687988 | 695988 | Submitted genomic | |||||||||
| nstd206 | nssv16900444 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 705988 | 717988 | Submitted genomic | |||||||||
| nstd206 | nssv16900444 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 705988 | 717988 | Submitted genomic | |||||||||
| nstd206 | nssv16900445 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 40000 | 107150 | Submitted genomic | |||||||||
| nstd206 | nssv16900445 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 40000 | 107150 | Submitted genomic |