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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
nstd98 | nssv3761522 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000001.10 | 1 | 222150405 | 222150567 | 223201703 | 223201865 | Submitted genomic | |||||||
nstd98 | nssv3761522 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000001.10 | 1 | 222150405 | 222150567 | 223201703 | 223201865 | Submitted genomic | |||||||
nstd98 | nssv3761522 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000001.11 | 1 | 221977063 | 221977225 | 223028361 | 223028523 | Remapped | 1 | ||||||
nstd98 | nssv3761523 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000001.10 | 1 | 222150567 | 222150621 | 223201865 | 223201919 | Submitted genomic | |||||||
nstd98 | nssv3761523 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000001.10 | 1 | 222150567 | 222150621 | 223201865 | 223201919 | Submitted genomic | |||||||
nstd98 | nssv3761523 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000001.11 | 1 | 221977225 | 221977279 | 223028523 | 223028577 | Remapped | 1 | ||||||
nstd98 | nssv3761524 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000002.11 | 2 | 75444928 | 75444972 | 76804990 | 76805034 | Submitted genomic | |||||||
nstd98 | nssv3761524 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000002.11 | 2 | 75444928 | 75444972 | 76804990 | 76805034 | Submitted genomic | |||||||
nstd98 | nssv3761524 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000002.12 | 2 | 75217802 | 75217846 | 76577864 | 76577908 | Remapped | 1 | ||||||
nstd98 | nssv3761525 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000002.11 | 2 | 77318677 | 77318740 | 78195410 | 78195473 | Submitted genomic | |||||||
nstd98 | nssv3761525 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000002.11 | 2 | 77318677 | 77318740 | 78195410 | 78195473 | Submitted genomic | |||||||
nstd98 | nssv3761525 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000002.12 | 2 | 77091551 | 77091614 | 77968284 | 77968347 | Remapped | 1 | ||||||
nstd98 | nssv3761526 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000002.11 | 2 | 77318677 | 77318740 | 78195410 | 78195473 | Submitted genomic | |||||||
nstd98 | nssv3761526 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000002.11 | 2 | 77318677 | 77318740 | 78195410 | 78195473 | Submitted genomic | |||||||
nstd98 | nssv3761526 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000002.12 | 2 | 77091551 | 77091614 | 77968284 | 77968347 | Remapped | 1 | ||||||
nstd98 | nssv3761527 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000002.11 | 2 | 77318421 | 77318561 | 78195154 | 78195294 | Submitted genomic | |||||||
nstd98 | nssv3761527 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000002.11 | 2 | 77318421 | 77318561 | 78195154 | 78195294 | Submitted genomic | |||||||
nstd98 | nssv3761527 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000002.12 | 2 | 77091295 | 77091435 | 77968028 | 77968168 | Remapped | 1 | ||||||
nstd98 | nssv3761528 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000011.9 | 11 | 130434903 | 130434960 | 130624026 | 130624082 | Submitted genomic | |||||||
nstd98 | nssv3761528 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000011.9 | 11 | 130434903 | 130434960 | 130624026 | 130624082 | Submitted genomic | |||||||
nstd98 | nssv3761528 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000011.10 | 11 | 130565008 | 130565065 | 130754131 | 130754187 | Remapped | 1 | ||||||
nstd98 | nssv3761529 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112139023 | 112139077 | 115514961 | 115515016 | Submitted genomic | |||||||
nstd98 | nssv3761529 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112139023 | 112139077 | 115514961 | 115515016 | Submitted genomic | |||||||
nstd98 | nssv3761529 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000003.12 | 3 | 112420176 | 112420230 | 115796114 | 115796169 | Remapped | 1 | ||||||
nstd98 | nssv3761530 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112138807 | 112138859 | 115514746 | 115514798 | Submitted genomic | |||||||
nstd98 | nssv3761530 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112138807 | 112138859 | 115514746 | 115514798 | Submitted genomic | |||||||
nstd98 | nssv3761530 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000003.12 | 3 | 112419960 | 112420012 | 115795899 | 115795951 | Remapped | 1 | ||||||
nstd98 | nssv3761531 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112139311 | 112139338 | 115515251 | 115515278 | Submitted genomic | |||||||
nstd98 | nssv3761531 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112139311 | 112139338 | 115515251 | 115515278 | Submitted genomic | |||||||
nstd98 | nssv3761531 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000003.12 | 3 | 112420464 | 112420491 | 115796404 | 115796431 | Remapped | 1 | ||||||
nstd98 | nssv3761532 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112139553 | 112139611 | 115515494 | 115515552 | Submitted genomic | |||||||
nstd98 | nssv3761532 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112139553 | 112139611 | 115515494 | 115515552 | Submitted genomic | |||||||
nstd98 | nssv3761532 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000003.12 | 3 | 112420706 | 112420764 | 115796647 | 115796705 | Remapped | 1 | ||||||
nstd98 | nssv3761533 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000002.11 | 2 | 77318269 | 77318318 | 78195002 | 78195051 | Submitted genomic | |||||||
nstd98 | nssv3761533 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000002.11 | 2 | 77318269 | 77318318 | 78195002 | 78195051 | Submitted genomic | |||||||
nstd98 | nssv3761533 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000002.12 | 2 | 77091143 | 77091192 | 77967876 | 77967925 | Remapped | 1 | ||||||
nstd98 | nssv3761534 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000011.9 | 11 | 130434794 | 130434845 | 130623915 | 130623967 | Submitted genomic | |||||||
nstd98 | nssv3761534 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000011.9 | 11 | 130434794 | 130434845 | 130623915 | 130623967 | Submitted genomic | |||||||
nstd98 | nssv3761534 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000011.10 | 11 | 130564899 | 130564950 | 130754020 | 130754072 | Remapped | 1 | ||||||
nstd98 | nssv3761535 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000011.9 | 11 | 130434721 | 130434729 | 130623842 | 130623850 | Submitted genomic | |||||||
nstd98 | nssv3761535 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000011.9 | 11 | 130434721 | 130434729 | 130623842 | 130623850 | Submitted genomic | |||||||
nstd98 | nssv3761535 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000011.10 | 11 | 130564826 | 130564834 | 130753947 | 130753955 | Remapped | 1 | ||||||
nstd98 | nssv3761536 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112138686 | 112138807 | 115514625 | 115514746 | Submitted genomic | |||||||
nstd98 | nssv3761536 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112138686 | 112138807 | 115514625 | 115514746 | Submitted genomic | |||||||
nstd98 | nssv3761536 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000003.12 | 3 | 112419839 | 112419960 | 115795778 | 115795899 | Remapped | 1 | ||||||
nstd98 | nssv3761537 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112138807 | 112138859 | 115514746 | 115514798 | Submitted genomic | |||||||
nstd98 | nssv3761537 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112138807 | 112138859 | 115514746 | 115514798 | Submitted genomic | |||||||
nstd98 | nssv3761537 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000003.12 | 3 | 112419960 | 112420012 | 115795899 | 115795951 | Remapped | 1 | ||||||
nstd98 | nssv3761538 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112139369 | 112139435 | 115515310 | 115515376 | Submitted genomic | |||||||
nstd98 | nssv3761538 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112139369 | 112139435 | 115515310 | 115515376 | Submitted genomic | |||||||
nstd98 | nssv3761538 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000003.12 | 3 | 112420522 | 112420588 | 115796463 | 115796529 | Remapped | 1 | ||||||
nstd98 | nssv3761539 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112139977 | 112139986 | 115515918 | 115515927 | Submitted genomic | |||||||
nstd98 | nssv3761539 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112139977 | 112139986 | 115515918 | 115515927 | Submitted genomic | |||||||
nstd98 | nssv3761539 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000003.12 | 3 | 112421130 | 112421139 | 115797071 | 115797080 | Remapped | 1 | ||||||
nstd98 | nsv1067810 | copy number variation | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112138686 | 112138807 | 115514625 | 115514746 | Submitted genomic | ||||||||||
nstd98 | nsv1067810 | copy number variation | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112138686 | 112138807 | 115514625 | 115514746 | Submitted genomic | ||||||||||
nstd98 | nsv1067810 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 112419839 | 112419960 | 115795778 | 115795899 | Remapped | 1 | |||||||||
nstd98 | nsv1067811 | copy number variation | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112139977 | 112139986 | 115515918 | 115515927 | Submitted genomic | ||||||||||
nstd98 | nsv1067811 | copy number variation | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112139977 | 112139986 | 115515918 | 115515927 | Submitted genomic | ||||||||||
nstd98 | nsv1067811 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 112421130 | 112421139 | 115797071 | 115797080 | Remapped | 1 | |||||||||
nstd98 | nsv1067812 | copy number variation | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112139553 | 112139611 | 115515494 | 115515552 | Submitted genomic | ||||||||||
nstd98 | nsv1067812 | copy number variation | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112139553 | 112139611 | 115515494 | 115515552 | Submitted genomic | ||||||||||
nstd98 | nsv1067812 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 112420706 | 112420764 | 115796647 | 115796705 | Remapped | 1 | |||||||||
nstd98 | nsv1067813 | copy number variation | No | GRCh37 (hg19) | NC_000002.11 | 2 | 77318421 | 77318561 | 78195154 | 78195294 | Submitted genomic | ||||||||||
nstd98 | nsv1067813 | copy number variation | No | GRCh37 (hg19) | NC_000002.11 | 2 | 77318421 | 77318561 | 78195154 | 78195294 | Submitted genomic | ||||||||||
nstd98 | nsv1067813 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 77091295 | 77091435 | 77968028 | 77968168 | Remapped | 1 | |||||||||
nstd98 | nsv1067814 | copy number variation | No | GRCh37 (hg19) | NC_000011.9 | 11 | 130434794 | 130434845 | 130623915 | 130623967 | Submitted genomic | ||||||||||
nstd98 | nsv1067814 | copy number variation | No | GRCh37 (hg19) | NC_000011.9 | 11 | 130434794 | 130434845 | 130623915 | 130623967 | Submitted genomic | ||||||||||
nstd98 | nsv1067814 | copy number variation | No | GRCh38.p12 | NC_000011.10 | 11 | 130564899 | 130564950 | 130754020 | 130754072 | Remapped | 1 | |||||||||
nstd98 | nsv1067815 | copy number variation | No | GRCh37 (hg19) | NC_000011.9 | 11 | 130434721 | 130434729 | 130623842 | 130623850 | Submitted genomic | ||||||||||
nstd98 | nsv1067815 | copy number variation | No | GRCh37 (hg19) | NC_000011.9 | 11 | 130434721 | 130434729 | 130623842 | 130623850 | Submitted genomic | ||||||||||
nstd98 | nsv1067815 | copy number variation | No | GRCh38.p12 | NC_000011.10 | 11 | 130564826 | 130564834 | 130753947 | 130753955 | Remapped | 1 | |||||||||
nstd98 | nsv1067816 | copy number variation | No | GRCh37 (hg19) | NC_000001.10 | 1 | 222150405 | 222150567 | 223201703 | 223201865 | Submitted genomic | ||||||||||
nstd98 | nsv1067816 | copy number variation | No | GRCh37 (hg19) | NC_000001.10 | 1 | 222150405 | 222150567 | 223201703 | 223201865 | Submitted genomic | ||||||||||
nstd98 | nsv1067816 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 221977063 | 221977225 | 223028361 | 223028523 | Remapped | 1 | |||||||||
nstd98 | nsv1067817 | copy number variation | No | GRCh37 (hg19) | NC_000011.9 | 11 | 130434903 | 130434960 | 130624026 | 130624082 | Submitted genomic | ||||||||||
nstd98 | nsv1067817 | copy number variation | No | GRCh37 (hg19) | NC_000011.9 | 11 | 130434903 | 130434960 | 130624026 | 130624082 | Submitted genomic | ||||||||||
nstd98 | nsv1067817 | copy number variation | No | GRCh38.p12 | NC_000011.10 | 11 | 130565008 | 130565065 | 130754131 | 130754187 | Remapped | 1 | |||||||||
nstd98 | nsv1067818 | copy number variation | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112138807 | 112138859 | 115514746 | 115514798 | Submitted genomic | ||||||||||
nstd98 | nsv1067818 | copy number variation | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112138807 | 112138859 | 115514746 | 115514798 | Submitted genomic | ||||||||||
nstd98 | nsv1067818 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 112419960 | 112420012 | 115795899 | 115795951 | Remapped | 1 | |||||||||
nstd98 | nsv1067819 | copy number variation | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112139369 | 112139435 | 115515310 | 115515376 | Submitted genomic | ||||||||||
nstd98 | nsv1067819 | copy number variation | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112139369 | 112139435 | 115515310 | 115515376 | Submitted genomic | ||||||||||
nstd98 | nsv1067819 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 112420522 | 112420588 | 115796463 | 115796529 | Remapped | 1 | |||||||||
nstd98 | nsv1067820 | copy number variation | No | GRCh37 (hg19) | NC_000001.10 | 1 | 222150567 | 222150621 | 223201865 | 223201919 | Submitted genomic | ||||||||||
nstd98 | nsv1067820 | copy number variation | No | GRCh37 (hg19) | NC_000001.10 | 1 | 222150567 | 222150621 | 223201865 | 223201919 | Submitted genomic | ||||||||||
nstd98 | nsv1067820 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 221977225 | 221977279 | 223028523 | 223028577 | Remapped | 1 | |||||||||
nstd98 | nsv1067821 | copy number variation | No | GRCh37 (hg19) | NC_000002.11 | 2 | 75444928 | 75444972 | 76804990 | 76805034 | Submitted genomic | ||||||||||
nstd98 | nsv1067821 | copy number variation | No | GRCh37 (hg19) | NC_000002.11 | 2 | 75444928 | 75444972 | 76804990 | 76805034 | Submitted genomic | ||||||||||
nstd98 | nsv1067821 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 75217802 | 75217846 | 76577864 | 76577908 | Remapped | 1 | |||||||||
nstd98 | nsv1067822 | copy number variation | No | GRCh37 (hg19) | NC_000002.11 | 2 | 77318677 | 77318740 | 78195410 | 78195473 | Submitted genomic | ||||||||||
nstd98 | nsv1067822 | copy number variation | No | GRCh37 (hg19) | NC_000002.11 | 2 | 77318677 | 77318740 | 78195410 | 78195473 | Submitted genomic | ||||||||||
nstd98 | nsv1067822 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 77091551 | 77091614 | 77968284 | 77968347 | Remapped | 1 | |||||||||
nstd98 | nsv1067823 | copy number variation | No | GRCh37 (hg19) | NC_000002.11 | 2 | 77318269 | 77318318 | 78195002 | 78195051 | Submitted genomic | ||||||||||
nstd98 | nsv1067823 | copy number variation | No | GRCh37 (hg19) | NC_000002.11 | 2 | 77318269 | 77318318 | 78195002 | 78195051 | Submitted genomic | ||||||||||
nstd98 | nsv1067823 | copy number variation | No | GRCh38.p12 | NC_000002.12 | 2 | 77091143 | 77091192 | 77967876 | 77967925 | Remapped | 1 | |||||||||
nstd98 | nsv1067824 | copy number variation | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112139023 | 112139077 | 115514961 | 115515016 | Submitted genomic | ||||||||||
nstd98 | nsv1067824 | copy number variation | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112139023 | 112139077 | 115514961 | 115515016 | Submitted genomic | ||||||||||
nstd98 | nsv1067824 | copy number variation | No | GRCh38.p12 | NC_000003.12 | 3 | 112420176 | 112420230 | 115796114 | 115796169 | Remapped | 1 | |||||||||
nstd98 | nsv1067825 | copy number variation | No | GRCh37 (hg19) | NC_000003.11 | 3 | 112139311 | 112139338 | 115515251 | 115515278 | Submitted genomic |