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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 | 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 | 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 | 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 | 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 | |||||||||
| nstd206 | nssv16900446 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 707988 | 717694 | Submitted genomic | |||||||||
| nstd206 | nssv16900446 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 707988 | 717694 | Submitted genomic | |||||||||
| nstd206 | nssv16900471 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 724216 | 736369 | Submitted genomic | |||||||||
| nstd206 | nssv16900471 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 724216 | 736369 | Submitted genomic | |||||||||
| nstd206 | nssv16900528 | copy number variation | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 731375 | 739994 | Submitted genomic | |||||||||
| nstd206 | nssv16900528 | copy number variation | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 731375 | 739994 | Submitted genomic | |||||||||
| nstd206 | nssv16900529 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 731650 | 915000 | Submitted genomic | |||||||||
| nstd206 | nssv16900529 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 731650 | 915000 | Submitted genomic | |||||||||
| nstd206 | nssv16900530 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 751988 | 775988 | Submitted genomic | |||||||||
| nstd206 | nssv16900530 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 751988 | 775988 | Submitted genomic | |||||||||
| nstd206 | nssv16900538 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 751988 | 796300 | Submitted genomic | |||||||||
| nstd206 | nssv16900538 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 751988 | 796300 | Submitted genomic | |||||||||
| nstd206 | nssv16900591 | alu insertion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 758508 | 758559 | Submitted genomic | |||||||||
| nstd206 | nssv16900591 | alu insertion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 758508 | 758559 | Submitted genomic | |||||||||
| nstd206 | nssv16900617 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 759988 | 765988 | Submitted genomic | |||||||||
| nstd206 | nssv16900617 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 759988 | 765988 | Submitted genomic | |||||||||
| nstd206 | nssv16900628 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 761567 | 762117 | Submitted genomic | |||||||||
| nstd206 | nssv16900628 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 761567 | 762117 | Submitted genomic | |||||||||
| nstd206 | nssv16900638 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 773988 | 827988 | Submitted genomic | |||||||||
| nstd206 | nssv16900638 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 773988 | 827988 | Submitted genomic | |||||||||
| nstd206 | nssv16901621 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 774696 | 774775 | Submitted genomic | |||||||||
| nstd206 | nssv16901621 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 774696 | 774775 | Submitted genomic | |||||||||
| nstd206 | nssv16901687 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 778728 | 778780 | Submitted genomic | |||||||||
| nstd206 | nssv16901687 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 778728 | 778780 | Submitted genomic | |||||||||
| nstd206 | nssv16901752 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 793973 | 793983 | 793992 | 893045 | 893055 | 893064 | Submitted genomic | |||||
| nstd206 | nssv16901752 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 793973 | 793983 | 793992 | 893045 | 893055 | 893064 | Submitted genomic | |||||
| nstd206 | nssv16901805 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 803230 | 806636 | Submitted genomic | |||||||||
| nstd206 | nssv16901805 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 803230 | 806636 | Submitted genomic | |||||||||
| nstd206 | nssv16901843 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 811384 | 811817 | Submitted genomic | |||||||||
| nstd206 | nssv16901843 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 811384 | 811817 | Submitted genomic | |||||||||
| nstd206 | nssv16902854 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 819743 | 820254 | 821016 | 822123 | 822868 | 823549 | Submitted genomic | |||||
| nstd206 | nssv16902854 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 819743 | 820254 | 821016 | 822123 | 822868 | 823549 | Submitted genomic | |||||
| nstd206 | nssv16902858 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 820442 | 821051 | Submitted genomic | |||||||||
| nstd206 | nssv16902858 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 820442 | 821051 | Submitted genomic | |||||||||
| nstd206 | nssv16902999 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 820743 | 822263 | Submitted genomic | |||||||||
| nstd206 | nssv16902999 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 820743 | 822263 | Submitted genomic | |||||||||
| nstd206 | nssv16903009 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 822101 | 822575 | 822694 | 823537 | 823641 | 824328 | Submitted genomic | |||||
| nstd206 | nssv16903009 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 822101 | 822575 | 822694 | 823537 | 823641 | 824328 | Submitted genomic | |||||
| nstd206 | nssv16903010 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 822676 | 822759 | Submitted genomic | |||||||||
| nstd206 | nssv16903010 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 822676 | 822759 | Submitted genomic | |||||||||
| nstd206 | nssv16903093 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 831216 | 833732 | Submitted genomic | |||||||||
| nstd206 | nssv16903093 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 831216 | 833732 | Submitted genomic | |||||||||
| nstd206 | nssv16904109 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 841389 | 856501 | Submitted genomic | |||||||||
| nstd206 | nssv16904109 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 841389 | 856501 | Submitted genomic | |||||||||
| nstd206 | nssv16904130 | alu insertion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 852829 | 852880 | Submitted genomic | |||||||||
| nstd206 | nssv16904130 | alu insertion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 852829 | 852880 | Submitted genomic | |||||||||
| nstd206 | nssv16904193 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 859112 | 864158 | Submitted genomic | |||||||||
| nstd206 | nssv16904193 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 859112 | 864158 | Submitted genomic | |||||||||
| nstd206 | nssv16904221 | alu insertion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 866135 | 866186 | Submitted genomic | |||||||||
| nstd206 | nssv16904221 | alu insertion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 866135 | 866186 | Submitted genomic | |||||||||
| nstd206 | nssv16904222 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 872823 | 874500 | Submitted genomic | |||||||||
| nstd206 | nssv16904222 | deletion | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 872823 | 874500 | Submitted genomic | |||||||||
| nstd206 | nssv16905659 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 167950 | 173000 | Submitted genomic | |||||||||
| nstd206 | nssv16905659 | duplication | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 167950 | 173000 | Submitted genomic | |||||||||
| nstd206 | nssv16905921 | copy number variation | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 182000 | 206000 | Submitted genomic | |||||||||
| nstd206 | nssv16905921 | copy number variation | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 182000 | 206000 | Submitted genomic | |||||||||
| nstd206 | nssv16907125 | copy number variation | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 261666 | 287666 | Submitted genomic | |||||||||
| nstd206 | nssv16907125 | copy number variation | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 261666 | 287666 | Submitted genomic | |||||||||
| nstd206 | nssv17683859 | copy number variation | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 585988 | 596000 | Submitted genomic | |||||||||
| nstd206 | nssv17683859 | copy number variation | 1 | Sequencing | Sequence alignment | No | GRCh38 (hg38) | NC_000001.11 | 1 | 585988 | 596000 | Submitted genomic |