Please click here to confirm download.
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| nstd84 | nssv1660723 | copy number loss | Oligo aCGH | Probe signal intensity | No | 9 | GRCh38.p12 | NC_000001.11 | 1 | 629825 | 633539 | Remapped | 1 | ||||||||
| nstd84 | nssv1660829 | copy number gain | Oligo aCGH | Probe signal intensity | No | 9 | GRCh38.p12 | NC_000001.11 | 1 | 1040662 | 1042167 | Remapped | 1 | ||||||||
| nstd84 | nssv1660835 | copy number gain | Oligo aCGH | Probe signal intensity | No | 9 | GRCh38.p12 | NC_000001.11 | 1 | 16034186 | 16036924 | Remapped | 1 | ||||||||
| nstd84 | nssv1660848 | copy number loss | Oligo aCGH | Probe signal intensity | No | 2 | GRCh38.p12 | NC_000001.11 | 1 | 629825 | 633539 | Remapped | 1 | ||||||||
| nstd84 | nssv1660877 | copy number loss | Oligo aCGH | Probe signal intensity | No | 9 | GRCh38.p12 | NC_000001.11 | 1 | 7781215 | 7782889 | Remapped | 1 | ||||||||
| nstd84 | nssv1660946 | copy number gain | Oligo aCGH | Probe signal intensity | No | 2 | GRCh38.p12 | NC_000001.11 | 1 | 6454335 | 6457812 | Remapped | 1 | ||||||||
| nstd84 | nssv1661034 | copy number gain | Oligo aCGH | Probe signal intensity | No | 2 | GRCh38.p12 | NC_000001.11 | 1 | 11925237 | 11925956 | Remapped | 1 | ||||||||
| nstd84 | nssv1661133 | copy number gain | Sequencing | Read depth | No | 9 | GRCh38.p12 | NC_000001.11 | 1 | 1041938 | 1042178 | Remapped | 1 | ||||||||
| nstd84 | nssv1661205 | copy number gain | Sequencing | Read depth | No | 9 | GRCh38.p12 | NC_000001.11 | 1 | 1452339 | 1452459 | Remapped | 1 | ||||||||
| nstd84 | nssv1661341 | copy number loss | Sequencing | Read depth | No | 9 | GRCh38.p12 | NC_000001.11 | 1 | 12857085 | 12880105 | Remapped | 1.00148 | ||||||||
| nstd84 | nssv1661383 | copy number loss | Oligo aCGH | Probe signal intensity | No | 2 | GRCh38.p12 | NC_000001.11 | 1 | 1918932 | 1920036 | Remapped | 1 | ||||||||
| nstd84 | nssv1661472 | copy number loss | Sequencing | Read depth | No | 9 | GRCh38.p12 | NC_000001.11 | 1 | 12861199 | 12861799 | Remapped | 1 | ||||||||
| nstd84 | nssv1661588 | copy number gain | Oligo aCGH | Probe signal intensity | No | 2 | GRCh38.p12 | NC_000001.11 | 1 | 13281503 | 13284034 | Remapped | 1 | ||||||||
| nstd84 | nssv1661635 | copy number gain | Oligo aCGH | Probe signal intensity | No | 9 | GRCh38.p12 | NC_000001.11 | 1 | 6454335 | 6456012 | Remapped | 1 | ||||||||
| nstd84 | nssv1661696 | copy number loss | Sequencing | Read depth | No | 2 | GRCh38.p12 | NC_000001.11 | 1 | 10693821 | 10693941 | Remapped | 1 | ||||||||
| nstd84 | nssv1661886 | copy number loss | Oligo aCGH | Probe signal intensity | No | 2 | GRCh38.p12 | NC_000001.11 | 1 | 588571 | 628589 | Remapped | 1 | ||||||||
| nstd84 | nssv1661995 | copy number gain | Oligo aCGH | Probe signal intensity | No | 2 | GRCh38.p12 | NC_000001.11 | 1 | 10947024 | 10948093 | Remapped | 1 | ||||||||
| nstd84 | nssv1662087 | copy number loss | Sequencing | Read depth | No | 9 | GRCh38.p12 | NC_000001.11 | 1 | 12793205 | 12941566 | Remapped | 1.00215 | ||||||||
| nstd84 | nssv1662108 | copy number gain | SNP array | SNP genotyping analysis | No | 2 | GRCh38.p12 | NC_000001.11 | 1 | 2308897 | 2310979 | Remapped | 1 | ||||||||
| nstd84 | nssv1662160 | copy number gain | Oligo aCGH | Probe signal intensity | No | 9 | GRCh38.p12 | NC_000001.11 | 1 | 2143964 | 2144729 | Remapped | 1 | ||||||||
| nstd84 | nssv1662333 | copy number loss | Sequencing | Read depth | No | 9 | GRCh38.p12 | NC_000001.11 | 1 | 12881784 | 12882504 | Remapped | 1 | ||||||||
| nstd84 | nssv1662590 | copy number gain | Sequencing | Read depth | No | 6 | GRCh38.p12 | NC_000001.11 | 1 | 16049122 | 16053773 | Remapped | 1 | ||||||||
| nstd84 | nssv1662643 | copy number gain | Sequencing | Read depth | No | 6 | GRCh38.p12 | NC_000001.11 | 1 | 16564706 | 16567384 | Remapped | 1 | ||||||||
| nstd84 | nssv1662684 | copy number gain | Oligo aCGH | Probe signal intensity | No | 6 | GRCh38.p12 | NC_000001.11 | 1 | 816484 | 827763 | Remapped | 1 | ||||||||
| nstd84 | nssv1662789 | copy number loss | SNP array | SNP genotyping analysis | No | 6 | GRCh38.p12 | NC_000001.11 | 1 | 2221997 | 2223114 | Remapped | 1 | ||||||||
| nstd84 | nssv1662929 | copy number loss | SNP array | SNP genotyping analysis | No | 6 | GRCh38.p12 | NC_000001.11 | 1 | 5975077 | 5984096 | Remapped | 1 | ||||||||
| nstd84 | nssv1663328 | copy number gain | Oligo aCGH | Probe signal intensity | No | 6 | GRCh38.p12 | NC_000001.11 | 1 | 12779387 | 12812031 | Remapped | 1.00006 | ||||||||
| nstd84 | nssv1663859 | copy number loss | Oligo aCGH | Probe signal intensity | No | 6 | GRCh38.p12 | NC_000001.11 | 1 | 630352 | 633539 | Remapped | 1 | ||||||||
| nstd84 | nssv1663873 | copy number gain | Oligo aCGH | Probe signal intensity | No | 6 | GRCh38.p12 | NC_000001.11 | 1 | 11841033 | 11841596 | Remapped | 1 | ||||||||
| nstd84 | nssv1664041 | copy number loss | SNP array | SNP genotyping analysis | No | 7 | GRCh38.p12 | NC_000001.11 | 1 | 1690335 | 1741153 | Remapped | 1 | ||||||||
| nstd84 | nssv1664065 | copy number loss | Oligo aCGH | Probe signal intensity | No | 7 | GRCh38.p12 | NC_000001.11 | 1 | 629825 | 633539 | Remapped | 1 | ||||||||
| nstd84 | nssv1664078 | copy number gain | Sequencing | Read depth | No | 5 | GRCh38.p12 | NC_000001.11 | 1 | 1337979 | 1355153 | Remapped | 1 | ||||||||
| nstd84 | nssv1664192 | copy number loss | Oligo aCGH | Probe signal intensity | No | 7 | GRCh38.p12 | NC_000001.11 | 1 | 2019071 | 2019682 | Remapped | 1 | ||||||||
| nstd84 | nssv1664470 | copy number loss | Oligo aCGH | Probe signal intensity | No | 5 | GRCh38.p12 | NC_000001.11 | 1 | 15524177 | 15525284 | Remapped | 1 | ||||||||
| nstd84 | nssv1664485 | copy number loss | Oligo aCGH | Probe signal intensity | No | 5 | GRCh38.p12 | NC_000001.11 | 1 | 5977174 | 5978824 | Remapped | 1 | ||||||||
| nstd84 | nssv1664491 | copy number loss | Oligo aCGH | Probe signal intensity | No | 7 | GRCh38.p12 | NC_000001.11 | 1 | 1733155 | 1752176 | Remapped | 1 | ||||||||
| nstd84 | nssv1664504 | copy number gain | Oligo aCGH | Probe signal intensity | No | 7 | GRCh38.p12 | NC_000001.11 | 1 | 13308352 | 13311591 | Remapped | 1 | ||||||||
| nstd84 | nssv1664528 | copy number loss | Oligo aCGH | Probe signal intensity | No | 5 | GRCh38.p12 | NC_000001.11 | 1 | 629825 | 633539 | Remapped | 1 | ||||||||
| nstd84 | nssv1664595 | copy number gain | Sequencing | Read depth | No | 5 | GRCh38.p12 | NC_000001.11 | 1 | 1287111 | 1300203 | Remapped | 1 | ||||||||
| nstd84 | nssv1664774 | copy number loss | Oligo aCGH | Probe signal intensity | No | 7 | GRCh38.p12 | NC_000001.11 | 1 | 1675130 | 1731510 | Remapped | 1 | ||||||||
| nstd84 | nssv1665081 | copy number loss | Oligo aCGH | Probe signal intensity | No | 7 | GRCh38.p12 | NC_000001.11 | 1 | 2656239 | 2699346 | Remapped | 1 | ||||||||
| nstd84 | nssv1665197 | copy number loss | Oligo aCGH | Probe signal intensity | No | 7 | GRCh38.p12 | NC_000001.11 | 1 | 1732269 | 1732814 | Remapped | 1 | ||||||||
| nstd84 | nssv1665213 | copy number loss | Oligo aCGH | Probe signal intensity | No | 7 | GRCh38.p12 | NC_000001.11 | 1 | 14924123 | 14924764 | Remapped | 1 | ||||||||
| nstd84 | nssv1665233 | copy number gain | Oligo aCGH | Probe signal intensity | No | 7 | GRCh38.p12 | NC_000001.11 | 1 | 1090321 | 1091040 | Remapped | 1 | ||||||||
| nstd84 | nssv1665269 | copy number loss | Oligo aCGH | Probe signal intensity | No | 7 | GRCh38.p12 | NC_000001.11 | 1 | 1306947 | 1308542 | Remapped | 1 | ||||||||
| nstd84 | nssv1665557 | copy number gain | Sequencing | Read depth | No | 5 | GRCh38.p12 | NC_000001.11 | 1 | 972863 | 1050330 | Remapped | 1 | ||||||||
| nstd84 | nssv1665617 | copy number gain | Sequencing | Read depth | No | 5 | GRCh38.p12 | NC_000001.11 | 1 | 2588552 | 2592028 | Remapped | 1 | ||||||||
| nstd84 | nssv1665627 | copy number loss | Sequencing | Read depth | No | 5 | GRCh38.p12 | NC_000001.11 | 1 | 12828499 | 12828806 | Remapped | 1.00326 | ||||||||
| nstd84 | nssv1665634 | copy number loss | Sequencing | Read depth | No | 7 | GRCh38.p12 | NC_000001.11 | 1 | 12824949 | 12883411 | Remapped | 1.00063 | ||||||||
| nstd84 | nssv1665664 | copy number gain | Oligo aCGH | Probe signal intensity | No | 5 | GRCh38.p12 | NC_000001.11 | 1 | 64210 | 66134 | Remapped | 1 | ||||||||
| nstd84 | nssv1666107 | copy number gain | Oligo aCGH | Probe signal intensity | No | 8 | GRCh38.p12 | NC_000001.11 | 1 | 61130 | 79219 | Remapped | 1 | ||||||||
| nstd84 | nssv1666109 | copy number loss | Oligo aCGH | Probe signal intensity | No | 8 | GRCh38.p12 | NC_000001.11 | 1 | 630352 | 633539 | Remapped | 1 | ||||||||
| nstd84 | nssv1666110 | copy number gain | Sequencing | Read depth | No | 8 | GRCh38.p12 | NC_000001.11 | 1 | 1041480 | 1041703 | Remapped | 1 | ||||||||
| nstd84 | nssv1666111 | copy number loss | Oligo aCGH | Probe signal intensity | No | 8 | GRCh38.p12 | NC_000001.11 | 1 | 1978925 | 1980436 | Remapped | 1 | ||||||||
| nstd84 | nssv1666112 | copy number loss | Oligo aCGH | Probe signal intensity | No | 8 | GRCh38.p12 | NC_000001.11 | 1 | 6177883 | 6181156 | Remapped | 1 | ||||||||
| nstd84 | nssv1666113 | copy number gain | Sequencing | Read depth | No | 8 | GRCh38.p12 | NC_000001.11 | 1 | 6457186 | 6461763 | Remapped | 1 | ||||||||
| nstd84 | nssv1666114 | copy number gain | Oligo aCGH | Probe signal intensity | No | 8 | GRCh38.p12 | NC_000001.11 | 1 | 8616879 | 8624699 | Remapped | 1 | ||||||||
| nstd84 | nssv1666115 | copy number loss | Oligo aCGH | Probe signal intensity | No | 8 | GRCh38.p12 | NC_000001.11 | 1 | 11057541 | 11060128 | Remapped | 1 | ||||||||
| nstd84 | nssv1666116 | copy number gain | Oligo aCGH | Probe signal intensity | No | 8 | GRCh38.p12 | NC_000001.11 | 1 | 13281243 | 13313960 | Remapped | 1.00012 | ||||||||
| nstd84 | nssv1667353 | copy number loss | Oligo aCGH | Probe signal intensity | No | 4 | GRCh38.p12 | NC_000001.11 | 1 | 629825 | 633539 | Remapped | 1 | ||||||||
| nstd84 | nssv1667354 | copy number loss | Oligo aCGH | Probe signal intensity | No | 4 | GRCh38.p12 | NC_000001.11 | 1 | 1019715 | 1022722 | Remapped | 1 | ||||||||
| nstd84 | nssv1667355 | copy number gain | Sequencing | Read depth | No | 4 | GRCh38.p12 | NC_000001.11 | 1 | 1045735 | 1047688 | Remapped | 1 | ||||||||
| nstd84 | nssv1667356 | copy number gain | Sequencing | Read depth | No | 4 | GRCh38.p12 | NC_000001.11 | 1 | 1287111 | 1298114 | Remapped | 1 | ||||||||
| nstd84 | nssv1667357 | copy number loss | Oligo aCGH | Probe signal intensity | No | 4 | GRCh38.p12 | NC_000001.11 | 1 | 1426674 | 1439119 | Remapped | 1 | ||||||||
| nstd84 | nssv1667358 | copy number gain | Oligo aCGH | Probe signal intensity | No | 4 | GRCh38.p12 | NC_000001.11 | 1 | 6454335 | 6455728 | Remapped | 1 | ||||||||
| nstd84 | nssv1667359 | copy number gain | Oligo aCGH | Probe signal intensity | No | 4 | GRCh38.p12 | NC_000001.11 | 1 | 6601792 | 6606771 | Remapped | 1 | ||||||||
| nstd84 | nssv1667360 | copy number gain | Sequencing | Read depth | No | 4 | GRCh38.p12 | NC_000001.11 | 1 | 9719923 | 9722357 | Remapped | 1 | ||||||||
| nstd84 | nssv1667361 | copy number gain | Sequencing | Read depth | No | 4 | GRCh38.p12 | NC_000001.11 | 1 | 11517465 | 11529960 | Remapped | 1 | ||||||||
| nstd84 | nssv1667362 | copy number loss | Oligo aCGH | Probe signal intensity | No | 4 | GRCh38.p12 | NC_000001.11 | 1 | 15101123 | 15101874 | Remapped | 1 | ||||||||
| nstd84 | nssv1667363 | copy number loss | Sequencing | Read depth | No | 4 | GRCh38.p12 | NC_000001.11 | 1 | 15491297 | 15491398 | Remapped | 1 | ||||||||
| nstd84 | nssv1667364 | copy number loss | Sequencing | Read depth | No | 4 | GRCh38.p12 | NC_000001.11 | 1 | 16565596 | 16565995 | Remapped | 1 | ||||||||
| nstd84 | nssv1668421 | copy number loss | Oligo aCGH | Probe signal intensity | No | 3 | GRCh38.p12 | NC_000001.11 | 1 | 630352 | 634581 | Remapped | 1 | ||||||||
| nstd84 | nssv1668422 | copy number loss | Oligo aCGH | Probe signal intensity | No | 3 | GRCh38.p12 | NC_000001.11 | 1 | 1306947 | 1308364 | Remapped | 1 | ||||||||
| nstd84 | nssv1668423 | copy number gain | Sequencing | Read depth | No | 3 | GRCh38.p12 | NC_000001.11 | 1 | 1722531 | 1722882 | Remapped | 1 | ||||||||
| nstd84 | nssv1668424 | copy number gain | Oligo aCGH | Probe signal intensity | No | 3 | GRCh38.p12 | NC_000001.11 | 1 | 2400826 | 2401726 | Remapped | 1 | ||||||||
| nstd84 | nssv1668425 | copy number loss | Oligo aCGH | Probe signal intensity | No | 3 | GRCh38.p12 | NC_000001.11 | 1 | 6179059 | 6181156 | Remapped | 1 | ||||||||
| nstd84 | nssv1668426 | copy number loss | Oligo aCGH | Probe signal intensity | No | 3 | GRCh38.p12 | NC_000001.11 | 1 | 11924574 | 11925286 | Remapped | 1 | ||||||||
| nstd84 | nssv1668427 | copy number loss | Sequencing | Read depth | No | 3 | GRCh38.p12 | NC_000001.11 | 1 | 15191821 | 15192439 | Remapped | 1 | ||||||||
| nstd84 | nssv1669061 | copy number loss | Oligo aCGH | Probe signal intensity | No | 10 | GRCh38.p12 | NC_000001.11 | 1 | 2017435 | 2021808 | Remapped | 1 | ||||||||
| nstd84 | nssv1669288 | copy number gain | Oligo aCGH | Probe signal intensity | No | 10 | GRCh38.p12 | NC_000001.11 | 1 | 1040504 | 1042167 | Remapped | 1 | ||||||||
| nstd84 | nssv1669347 | copy number loss | Oligo aCGH | Probe signal intensity | No | 10 | GRCh38.p12 | NC_000001.11 | 1 | 9909284 | 9910940 | Remapped | 1 | ||||||||
| nstd84 | nssv1669387 | copy number loss | Oligo aCGH | Probe signal intensity | No | 10 | GRCh38.p12 | NC_000001.11 | 1 | 629825 | 634581 | Remapped | 1 | ||||||||
| nstd84 | nssv1669575 | copy number loss | Oligo aCGH | Probe signal intensity | No | 10 | GRCh38.p12 | NC_000001.11 | 1 | 3068685 | 3073503 | Remapped | 1 | ||||||||
| nstd84 | nssv1669591 | copy number gain | Sequencing | Read depth | No | 10 | GRCh38.p12 | NC_000001.11 | 1 | 1722531 | 1722882 | Remapped | 1 | ||||||||
| nstd84 | nssv1669666 | copy number gain | Sequencing | Read depth | No | 10 | GRCh38.p12 | NC_000001.11 | 1 | 9716442 | 9722154 | Remapped | 1 | ||||||||
| nstd84 | nssv1669883 | copy number gain | Sequencing | Read depth | No | 10 | GRCh38.p12 | NC_000001.11 | 1 | 12879494 | 12880124 | Remapped | 1 | ||||||||
| nstd84 | nssv1670523 | copy number gain | Oligo aCGH | Probe signal intensity | No | 10 | GRCh38.p12 | NC_000001.11 | 1 | 13280897 | 13315245 | Remapped | 1.00012 | ||||||||
| nstd84 | nssv1670555 | copy number gain | Sequencing | Read depth | No | 10 | GRCh38.p12 | NC_000001.11 | 1 | 69069 | 70029 | Remapped | 1 | ||||||||
| nstd84 | nssv1670692 | copy number loss | Oligo aCGH | Probe signal intensity | No | 1 | GRCh38.p12 | NC_000001.11 | 1 | 629825 | 633539 | Remapped | 1 | ||||||||
| nstd84 | nssv1670693 | copy number loss | Oligo aCGH | Probe signal intensity | No | 1 | GRCh38.p12 | NC_000001.11 | 1 | 843251 | 854003 | Remapped | 1 | ||||||||
| nstd84 | nssv1670694 | copy number loss | Oligo aCGH | Probe signal intensity | No | 1 | GRCh38.p12 | NC_000001.11 | 1 | 1197156 | 1197949 | Remapped | 1 | ||||||||
| nstd84 | nssv1670695 | copy number gain | Oligo aCGH | Probe signal intensity | No | 1 | GRCh38.p12 | NC_000001.11 | 1 | 1246114 | 1247550 | Remapped | 1 | ||||||||
| nstd84 | nssv1670696 | copy number loss | SNP array | SNP genotyping analysis | No | 1 | GRCh38.p12 | NC_000001.11 | 1 | 1696467 | 1739481 | Remapped | 1 | ||||||||
| nstd84 | nssv1670697 | copy number loss | Sequencing | Read depth | No | 1 | GRCh38.p12 | NC_000001.11 | 1 | 1722531 | 1722882 | Remapped | 1 | ||||||||
| nstd84 | nssv1670698 | copy number gain | Oligo aCGH | Probe signal intensity | No | 1 | GRCh38.p12 | NC_000001.11 | 1 | 2777483 | 2791862 | Remapped | 0.99868 | ||||||||
| nstd84 | nssv1670699 | copy number gain | Oligo aCGH | Probe signal intensity | No | 1 | GRCh38.p12 | NC_000001.11 | 1 | 3579724 | 3580173 | Remapped | 1 | ||||||||
| nstd84 | nssv1670700 | copy number gain | Oligo aCGH | Probe signal intensity | No | 1 | GRCh38.p12 | NC_000001.11 | 1 | 6397266 | 6457672 | Remapped | 1 | ||||||||
| nstd84 | nssv1670701 | copy number loss | Oligo aCGH | Probe signal intensity | No | 1 | GRCh38.p12 | NC_000001.11 | 1 | 8654372 | 8657028 | Remapped | 1 | ||||||||
| nstd84 | nssv1670702 | copy number gain | Oligo aCGH | Probe signal intensity | No | 1 | GRCh38.p12 | NC_000001.11 | 1 | 12780476 | 12919496 | Remapped | 1.00233 | ||||||||
| nstd84 | nssv1670703 | copy number gain | Sequencing | Read depth | No | 1 | GRCh38.p12 | NC_000001.11 | 1 | 16049122 | 16053773 | Remapped | 1 |