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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
nstd39 | nssv558397 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 960587 | 965715 | Remapped | 1.01504 | ||||||||
nstd39 | nssv558398 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 25362250 | 25420872 | Remapped | 1 | ||||||||
nstd39 | nssv558409 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 103617377 | 103625771 | Remapped | 1 | ||||||||
nstd39 | nssv558410 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000002.12 | 2 | 20447074 | 20449439 | Remapped | 1 | ||||||||
nstd39 | nssv558411 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000002.12 | 2 | 27149134 | 27152865 | Remapped | 1 | ||||||||
nstd39 | nssv558412 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000002.12 | 2 | 73784189 | 73817147 | Remapped | 1 | ||||||||
nstd39 | nssv558413 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000002.12 | 2 | 94871487 | 94876823 | Remapped | 1 | ||||||||
nstd39 | nssv558414 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000002.12 | 2 | 130151407 | 130182121 | Remapped | 1 | ||||||||
nstd39 | nssv558415 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000002.12 | 2 | 131722491 | 131767404 | Remapped | 1 | ||||||||
nstd39 | nssv558416 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000002.12 | 2 | 131794961 | 131801661 | Remapped | 1 | ||||||||
nstd39 | nssv558417 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000002.12 | 2 | 219538947 | 219543765 | Remapped | 1 | ||||||||
nstd39 | nssv558418 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000002.12 | 2 | 232378638 | 232382887 | Remapped | 1 | ||||||||
nstd39 | nssv558419 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000002.12 | 2 | 232406842 | 232410715 | Remapped | 1 | ||||||||
nstd39 | nssv558420 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 103749818 | 103758688 | Remapped | 1 | ||||||||
nstd39 | nssv558421 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000002.12 | 2 | 232456123 | 232460032 | Remapped | 1 | ||||||||
nstd39 | nssv558422 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000002.12 | 2 | 239960739 | 240025381 | Remapped | 1 | ||||||||
nstd39 | nssv558423 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000002.12 | 2 | 240568687 | 240578724 | Remapped | 1 | ||||||||
nstd39 | nssv558424 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000002.12 | 2 | 240691845 | 240698482 | Remapped | 1 | ||||||||
nstd39 | nssv558431 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 107056787 | 107059292 | Remapped | 1 | ||||||||
nstd39 | nssv558441 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000003.12 | 3 | 49683948 | 49688763 | Remapped | 1 | ||||||||
nstd39 | nssv558442 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 109668022 | 109683996 | Remapped | 1 | ||||||||
nstd39 | nssv558443 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000003.12 | 3 | 49717532 | 49719690 | Remapped | 1 | ||||||||
nstd39 | nssv558444 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000003.12 | 3 | 50606455 | 50611831 | Remapped | 1 | ||||||||
nstd39 | nssv558445 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000003.12 | 3 | 52221082 | 52226163 | Remapped | 1 | ||||||||
nstd39 | nssv558446 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000003.12 | 3 | 198152366 | 198180857 | Remapped | 1 | ||||||||
nstd39 | nssv558447 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000004.12 | 4 | 987659 | 993436 | Remapped | 1 | ||||||||
nstd39 | nssv558448 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000004.12 | 4 | 9781634 | 9784009 | Remapped | 1 | ||||||||
nstd39 | nssv558449 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000004.12 | 4 | 69200329 | 69214731 | Remapped | 1 | ||||||||
nstd39 | nssv558450 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000004.12 | 4 | 190024368 | 190027257 | Remapped | 1 | ||||||||
nstd39 | nssv558453 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 109687796 | 109693744 | Remapped | 1 | ||||||||
nstd39 | nssv558464 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 116574409 | 116667692 | Remapped | 1 | ||||||||
nstd39 | nssv558475 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 148145033 | 148149790 | Remapped | 1 | ||||||||
nstd39 | nssv558486 | copy number loss | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 152153595 | 152159228 | Remapped | 1 | ||||||||
nstd39 | nssv558495 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 155610216 | 155614966 | Remapped | 1 | ||||||||
nstd39 | nssv558496 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 1449689 | 1470158 | Remapped | 1 | ||||||||
nstd39 | nssv558497 | copy number loss | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 161215297 | 161219248 | Remapped | 1 | ||||||||
nstd39 | nssv558498 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 161505415 | 161519569 | Remapped | 1 | ||||||||
nstd39 | nssv558499 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 161541761 | 161550010 | Remapped | 1 | ||||||||
nstd39 | nssv558500 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 161541761 | 161550623 | Remapped | 1 | ||||||||
nstd39 | nssv558501 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 161663152 | 161674073 | Remapped | 1.00037 | ||||||||
nstd39 | nssv558502 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 196774800 | 196793742 | Remapped | 1 | ||||||||
nstd39 | nssv558503 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 196819731 | 196832186 | Remapped | 1 | ||||||||
nstd39 | nssv558504 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 228106679 | 228109312 | Remapped | 1 | ||||||||
nstd39 | nssv558507 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 1471784 | 1496201 | Remapped | 1 | ||||||||
nstd39 | nssv558518 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 1512175 | 1534684 | Remapped | 1 | ||||||||
nstd39 | nssv558529 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 1702731 | 1724352 | Remapped | 1 | ||||||||
nstd39 | nssv558540 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 6424788 | 6460943 | Remapped | 1 | ||||||||
nstd39 | nssv558551 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 16563917 | 16613487 | Remapped | 1 | ||||||||
nstd39 | nssv558562 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 16921950 | 16972979 | Remapped | 1 | ||||||||
nstd39 | nssv558573 | copy number gain | Sequencing | Read depth | Yes | KB1 | GRCh38.p12 | NC_000001.11 | 1 | 25272490 | 25330445 | Remapped | 1 | ||||||||
nstd39 | nsv482036 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 960587 | 965715 | Remapped | 1.01504 | |||||||||||
nstd39 | nsv482037 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 25362250 | 25420872 | Remapped | 1 | |||||||||||
nstd39 | nsv482048 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 103617377 | 103625771 | Remapped | 1 | |||||||||||
nstd39 | nsv482049 | copy number variation | Yes | GRCh38.p12 | NC_000002.12 | 2 | 20447074 | 20449439 | Remapped | 1 | |||||||||||
nstd39 | nsv482050 | copy number variation | Yes | GRCh38.p12 | NC_000002.12 | 2 | 27149134 | 27152865 | Remapped | 1 | |||||||||||
nstd39 | nsv482051 | copy number variation | Yes | GRCh38.p12 | NC_000002.12 | 2 | 73784189 | 73817147 | Remapped | 1 | |||||||||||
nstd39 | nsv482052 | copy number variation | Yes | GRCh38.p12 | NC_000002.12 | 2 | 94871487 | 94876823 | Remapped | 1 | |||||||||||
nstd39 | nsv482053 | copy number variation | Yes | GRCh38.p12 | NC_000002.12 | 2 | 130151407 | 130182121 | Remapped | 1 | |||||||||||
nstd39 | nsv482054 | copy number variation | Yes | GRCh38.p12 | NC_000002.12 | 2 | 131722491 | 131767404 | Remapped | 1 | |||||||||||
nstd39 | nsv482055 | copy number variation | Yes | GRCh38.p12 | NC_000002.12 | 2 | 131794961 | 131801661 | Remapped | 1 | |||||||||||
nstd39 | nsv482056 | copy number variation | Yes | GRCh38.p12 | NC_000002.12 | 2 | 219538947 | 219543765 | Remapped | 1 | |||||||||||
nstd39 | nsv482057 | copy number variation | Yes | GRCh38.p12 | NC_000002.12 | 2 | 232378638 | 232382887 | Remapped | 1 | |||||||||||
nstd39 | nsv482058 | copy number variation | Yes | GRCh38.p12 | NC_000002.12 | 2 | 232406842 | 232410715 | Remapped | 1 | |||||||||||
nstd39 | nsv482059 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 103749818 | 103758688 | Remapped | 1 | |||||||||||
nstd39 | nsv482060 | copy number variation | Yes | GRCh38.p12 | NC_000002.12 | 2 | 232456123 | 232460032 | Remapped | 1 | |||||||||||
nstd39 | nsv482061 | copy number variation | Yes | GRCh38.p12 | NC_000002.12 | 2 | 239960739 | 240025381 | Remapped | 1 | |||||||||||
nstd39 | nsv482062 | copy number variation | Yes | GRCh38.p12 | NC_000002.12 | 2 | 240568687 | 240578724 | Remapped | 1 | |||||||||||
nstd39 | nsv482063 | copy number variation | Yes | GRCh38.p12 | NC_000002.12 | 2 | 240691845 | 240698482 | Remapped | 1 | |||||||||||
nstd39 | nsv482070 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 107056787 | 107059292 | Remapped | 1 | |||||||||||
nstd39 | nsv482080 | copy number variation | Yes | GRCh38.p12 | NC_000003.12 | 3 | 49683948 | 49688763 | Remapped | 1 | |||||||||||
nstd39 | nsv482081 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 109668022 | 109683996 | Remapped | 1 | |||||||||||
nstd39 | nsv482082 | copy number variation | Yes | GRCh38.p12 | NC_000003.12 | 3 | 49717532 | 49719690 | Remapped | 1 | |||||||||||
nstd39 | nsv482083 | copy number variation | Yes | GRCh38.p12 | NC_000003.12 | 3 | 50606455 | 50611831 | Remapped | 1 | |||||||||||
nstd39 | nsv482084 | copy number variation | Yes | GRCh38.p12 | NC_000003.12 | 3 | 52221082 | 52226163 | Remapped | 1 | |||||||||||
nstd39 | nsv482085 | copy number variation | Yes | GRCh38.p12 | NC_000003.12 | 3 | 198152366 | 198180857 | Remapped | 1 | |||||||||||
nstd39 | nsv482086 | copy number variation | Yes | GRCh38.p12 | NC_000004.12 | 4 | 987659 | 993436 | Remapped | 1 | |||||||||||
nstd39 | nsv482087 | copy number variation | Yes | GRCh38.p12 | NC_000004.12 | 4 | 9781634 | 9784009 | Remapped | 1 | |||||||||||
nstd39 | nsv482088 | copy number variation | Yes | GRCh38.p12 | NC_000004.12 | 4 | 69200329 | 69214731 | Remapped | 1 | |||||||||||
nstd39 | nsv482089 | copy number variation | Yes | GRCh38.p12 | NC_000004.12 | 4 | 190024368 | 190027257 | Remapped | 1 | |||||||||||
nstd39 | nsv482092 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 109687796 | 109693744 | Remapped | 1 | |||||||||||
nstd39 | nsv482103 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 116574409 | 116667692 | Remapped | 1 | |||||||||||
nstd39 | nsv482114 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 148145033 | 148149790 | Remapped | 1 | |||||||||||
nstd39 | nsv482125 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 152153595 | 152159228 | Remapped | 1 | |||||||||||
nstd39 | nsv482134 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 155610216 | 155614966 | Remapped | 1 | |||||||||||
nstd39 | nsv482135 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 1449689 | 1470158 | Remapped | 1 | |||||||||||
nstd39 | nsv482136 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 161215297 | 161219248 | Remapped | 1 | |||||||||||
nstd39 | nsv482137 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 161505415 | 161519569 | Remapped | 1 | |||||||||||
nstd39 | nsv482138 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 161541761 | 161550010 | Remapped | 1 | |||||||||||
nstd39 | nsv482139 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 161541761 | 161550623 | Remapped | 1 | |||||||||||
nstd39 | nsv482140 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 161663152 | 161674073 | Remapped | 1.00037 | |||||||||||
nstd39 | nsv482141 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 196774800 | 196793742 | Remapped | 1 | |||||||||||
nstd39 | nsv482142 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 196819731 | 196832186 | Remapped | 1 | |||||||||||
nstd39 | nsv482143 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 228106679 | 228109312 | Remapped | 1 | |||||||||||
nstd39 | nsv482146 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 1471784 | 1496201 | Remapped | 1 | |||||||||||
nstd39 | nsv482157 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 1512175 | 1534684 | Remapped | 1 | |||||||||||
nstd39 | nsv482168 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 1702731 | 1724352 | Remapped | 1 | |||||||||||
nstd39 | nsv482179 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 6424788 | 6460943 | Remapped | 1 | |||||||||||
nstd39 | nsv482190 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 16563917 | 16613487 | Remapped | 1 | |||||||||||
nstd39 | nsv482201 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 16921950 | 16972979 | Remapped | 1 | |||||||||||
nstd39 | nsv482212 | copy number variation | Yes | GRCh38.p12 | NC_000001.11 | 1 | 25272490 | 25330445 | Remapped | 1 |