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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
nstd112 | nssv4166030 | copy number variation | Sequencing | Read depth | No | HGDP01344 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4166253 | copy number variation | Sequencing | Read depth | No | HGDP00553 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4166254 | copy number variation | Sequencing | Read depth | No | HGDP00286 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4166293 | copy number variation | Sequencing | Read depth | No | Jordan603 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4166305 | copy number variation | Sequencing | Read depth | No | NA13616 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4166412 | copy number variation | Sequencing | Read depth | No | HGDP01306 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4166478 | copy number variation | Sequencing | Read depth | No | HGDP01417 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4166500 | copy number variation | Sequencing | Read depth | No | Nlk18 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4166540 | copy number variation | Sequencing | Read depth | No | HGDP01338 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4166917 | copy number variation | Sequencing | Read depth | No | HGDP00956 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4167226 | copy number variation | Sequencing | Read depth | No | HGDP01253 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4167227 | copy number variation | Sequencing | Read depth | No | Est375 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4167340 | copy number variation | Sequencing | Read depth | No | NA15728 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4167420 | copy number variation | Sequencing | Read depth | No | HGDP00650 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4167513 | copy number variation | Sequencing | Read depth | No | NA15202 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4167609 | copy number variation | Sequencing | Read depth | No | HGDP01153 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4167701 | copy number variation | Sequencing | Read depth | No | HGDP00928 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4167778 | copy number variation | Sequencing | Read depth | No | HGDP00547 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4167789 | copy number variation | Sequencing | Read depth | No | DNK11 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4167873 | copy number variation | Sequencing | Read depth | No | mixa0105 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4168100 | copy number variation | Sequencing | Read depth | No | Ale32 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4168204 | copy number variation | Sequencing | Read depth | No | HG00190 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4168207 | copy number variation | Sequencing | Read depth | No | Peru60 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4168367 | copy number variation | Sequencing | Read depth | No | HGDP01223 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4168380 | copy number variation | Sequencing | Read depth | No | 4695 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4168460 | copy number variation | Sequencing | Read depth | No | HG03085 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4168464 | copy number variation | Sequencing | Read depth | No | HGDP00987 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4168472 | copy number variation | Sequencing | Read depth | No | HGDP01188 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4168521 | copy number variation | Sequencing | Read depth | No | HGDP00019 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4168550 | copy number variation | Sequencing | Read depth | No | Mansi79 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4168594 | copy number variation | Sequencing | Read depth | No | HGDP00855 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4168647 | copy number variation | Sequencing | Read depth | No | Ale14 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4168671 | copy number variation | Sequencing | Read depth | No | HGDP00798 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4168686 | copy number variation | Sequencing | Read depth | No | HGDP00449 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4168754 | copy number variation | Sequencing | Read depth | No | HGDP00915 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4168755 | copy number variation | Sequencing | Read depth | No | HGDP00846 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4168883 | copy number variation | Sequencing | Read depth | No | HGDP01323 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4168884 | copy number variation | Sequencing | Read depth | No | HGDP00616 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4168934 | copy number variation | Sequencing | Read depth | No | HG02943 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4168973 | copy number variation | Sequencing | Read depth | No | HGDP00932 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4169017 | copy number variation | Sequencing | Read depth | No | CHI-007 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4169041 | copy number variation | Sequencing | Read depth | No | K-15 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4169066 | copy number variation | Sequencing | Read depth | No | abh107 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4169228 | copy number variation | Sequencing | Read depth | No | NDL | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4169248 | copy number variation | Sequencing | Read depth | No | HG00128 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4169549 | copy number variation | Sequencing | Read depth | No | HGDP00725 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4169584 | copy number variation | Sequencing | Read depth | No | HGDP00773 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4169685 | copy number variation | Sequencing | Read depth | No | HGDP01034 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4169875 | copy number variation | Sequencing | Read depth | No | HG00360 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4170067 | copy number variation | Sequencing | Read depth | No | Ale22 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4170184 | copy number variation | Sequencing | Read depth | No | HGDP00549 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4170192 | copy number variation | Sequencing | Read depth | No | HGDP00656 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4170511 | copy number variation | Sequencing | Read depth | No | HGDP00551 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4170652 | copy number variation | Sequencing | Read depth | No | HGDP00857 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4170663 | copy number variation | Sequencing | Read depth | No | Est400 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4170681 | copy number variation | Sequencing | Read depth | No | HGDP00903 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4170958 | copy number variation | Sequencing | Read depth | No | HGDP00328 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4170993 | copy number variation | Sequencing | Read depth | No | HGDP01240 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4171047 | copy number variation | Sequencing | Read depth | No | HG02724 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4171174 | copy number variation | Sequencing | Read depth | No | NA17385 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4171416 | copy number variation | Sequencing | Read depth | No | BulgarianC1 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4171470 | copy number variation | Sequencing | Read depth | No | HGDP00530 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4171603 | copy number variation | Sequencing | Read depth | No | lez42 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4171688 | copy number variation | Sequencing | Read depth | No | ch113 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4171734 | copy number variation | Sequencing | Read depth | No | HGDP01297 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4171767 | copy number variation | Sequencing | Read depth | No | HGDP00125 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4171970 | copy number variation | Sequencing | Read depth | No | HGDP00556 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4172003 | copy number variation | Sequencing | Read depth | No | HGDP00749 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4172185 | copy number variation | Sequencing | Read depth | No | HG03100 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4172223 | copy number variation | Sequencing | Read depth | No | HGDP00195 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4172293 | copy number variation | Sequencing | Read depth | No | HG02464 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4172635 | copy number variation | Sequencing | Read depth | No | NA15203 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4173063 | copy number variation | Sequencing | Read depth | No | NA19044 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4173119 | copy number variation | Sequencing | Read depth | No | zapo0098 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4173200 | copy number variation | Sequencing | Read depth | No | Nesk22 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4173216 | copy number variation | Sequencing | Read depth | No | HGDP01203 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4173347 | copy number variation | Sequencing | Read depth | No | ND19394 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4173453 | copy number variation | Sequencing | Read depth | No | HGDP01163 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4173696 | copy number variation | Sequencing | Read depth | No | HGDP01215 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4173843 | copy number variation | Sequencing | Read depth | No | HGDP01350 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4173943 | copy number variation | Sequencing | Read depth | No | HGDP00540 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4174042 | copy number variation | Sequencing | Read depth | No | NA17377 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4174048 | copy number variation | Sequencing | Read depth | No | iran11 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4174321 | copy number variation | Sequencing | Read depth | No | HGDP00554 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4174455 | copy number variation | Sequencing | Read depth | No | NA17386 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4174474 | copy number variation | Sequencing | Read depth | No | HGDP00555 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4174520 | copy number variation | Sequencing | Read depth | No | HGDP01242 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4174542 | copy number variation | Sequencing | Read depth | No | NA17374 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4174723 | copy number variation | Sequencing | Read depth | No | HG02790 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4175010 | copy number variation | Sequencing | Read depth | No | HGDP00722 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4175098 | copy number variation | Sequencing | Read depth | No | HGDP01172 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4175106 | copy number variation | Sequencing | Read depth | No | HGDP00232 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4175178 | copy number variation | Sequencing | Read depth | No | NA21581 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4175218 | copy number variation | Sequencing | Read depth | No | HGDP01333 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4175304 | copy number variation | Sequencing | Read depth | No | HGDP01314 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4175476 | copy number variation | Sequencing | Read depth | No | HGDP00474 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4175477 | copy number variation | Sequencing | Read depth | No | HGDP00545 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4175552 | copy number variation | Sequencing | Read depth | No | HGDP00157 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4175582 | copy number variation | Sequencing | Read depth | No | HGDP01364 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 | ||||||||
nstd112 | nssv4175607 | copy number variation | Sequencing | Read depth | No | HG03006 | GRCh38.p12 | NC_000001.11 | 1 | 12048 | 89237 | Remapped | 1 |