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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
nstd152 | nssv14256411 | deletion | Optical mapping | Optical mapping | No | HG00513 | GRCh38 (hg38) | NC_000001.11 | 1 | 722571 | 742452 | Submitted genomic | |||||||||
nstd152 | nssv14256411 | deletion | Optical mapping | Optical mapping | No | HG00513 | GRCh38 (hg38) | NC_000001.11 | 1 | 722571 | 742452 | Submitted genomic | |||||||||
nstd152 | nssv14256412 | deletion | Optical mapping | Optical mapping | No | NA19238 | GRCh38 (hg38) | NC_000001.11 | 1 | 722571 | 742452 | Submitted genomic | |||||||||
nstd152 | nssv14256412 | deletion | Optical mapping | Optical mapping | No | NA19238 | GRCh38 (hg38) | NC_000001.11 | 1 | 722571 | 742452 | Submitted genomic | |||||||||
nstd152 | nssv14256413 | deletion | Optical mapping | Optical mapping | No | NA19239 | GRCh38 (hg38) | NC_000001.11 | 1 | 722571 | 742452 | Submitted genomic | |||||||||
nstd152 | nssv14256413 | deletion | Optical mapping | Optical mapping | No | NA19239 | GRCh38 (hg38) | NC_000001.11 | 1 | 722571 | 742452 | Submitted genomic | |||||||||
nstd152 | nssv14258865 | deletion | Optical mapping | Optical mapping | No | HG00733 | GRCh38 (hg38) | NC_000001.11 | 1 | 608157 | 615217 | Submitted genomic | |||||||||
nstd152 | nssv14258865 | deletion | Optical mapping | Optical mapping | No | HG00733 | GRCh38 (hg38) | NC_000001.11 | 1 | 608157 | 615217 | Submitted genomic | |||||||||
nstd152 | nssv14259076 | insertion | Optical mapping | Optical mapping | No | HG00512 | GRCh38 (hg38) | NC_000001.11 | 1 | 653276 | 693482 | Submitted genomic | |||||||||
nstd152 | nssv14259076 | insertion | Optical mapping | Optical mapping | No | HG00512 | GRCh38 (hg38) | NC_000001.11 | 1 | 653276 | 693482 | Submitted genomic | |||||||||
nstd152 | nssv14259077 | insertion | Optical mapping | Optical mapping | No | HG00513 | GRCh38 (hg38) | NC_000001.11 | 1 | 653276 | 693482 | Submitted genomic | |||||||||
nstd152 | nssv14259077 | insertion | Optical mapping | Optical mapping | No | HG00513 | GRCh38 (hg38) | NC_000001.11 | 1 | 653276 | 693482 | Submitted genomic | |||||||||
nstd152 | nssv14259078 | insertion | Optical mapping | Optical mapping | No | HG00514 | GRCh38 (hg38) | NC_000001.11 | 1 | 653276 | 693482 | Submitted genomic | |||||||||
nstd152 | nssv14259078 | insertion | Optical mapping | Optical mapping | No | HG00514 | GRCh38 (hg38) | NC_000001.11 | 1 | 653276 | 693482 | Submitted genomic | |||||||||
nstd152 | nssv14259079 | insertion | Optical mapping | Optical mapping | No | NA19238 | GRCh38 (hg38) | NC_000001.11 | 1 | 653276 | 693482 | Submitted genomic | |||||||||
nstd152 | nssv14259079 | insertion | Optical mapping | Optical mapping | No | NA19238 | GRCh38 (hg38) | NC_000001.11 | 1 | 653276 | 693482 | Submitted genomic | |||||||||
nstd152 | nssv14259096 | insertion | Optical mapping | Optical mapping | No | HG00512 | GRCh38 (hg38) | NC_000001.11 | 1 | 779146 | 796325 | Submitted genomic | |||||||||
nstd152 | nssv14259096 | insertion | Optical mapping | Optical mapping | No | HG00512 | GRCh38 (hg38) | NC_000001.11 | 1 | 779146 | 796325 | Submitted genomic | |||||||||
nstd152 | nssv14259097 | insertion | Optical mapping | Optical mapping | No | HG00513 | GRCh38 (hg38) | NC_000001.11 | 1 | 779146 | 796325 | Submitted genomic | |||||||||
nstd152 | nssv14259097 | insertion | Optical mapping | Optical mapping | No | HG00513 | GRCh38 (hg38) | NC_000001.11 | 1 | 779146 | 796325 | Submitted genomic | |||||||||
nstd152 | nssv14259098 | insertion | Optical mapping | Optical mapping | No | HG00514 | GRCh38 (hg38) | NC_000001.11 | 1 | 779146 | 796325 | Submitted genomic | |||||||||
nstd152 | nssv14259098 | insertion | Optical mapping | Optical mapping | No | HG00514 | GRCh38 (hg38) | NC_000001.11 | 1 | 779146 | 796325 | Submitted genomic | |||||||||
nstd152 | nssv14259099 | insertion | Optical mapping | Optical mapping | No | HG00731 | GRCh38 (hg38) | NC_000001.11 | 1 | 779146 | 796325 | Submitted genomic | |||||||||
nstd152 | nssv14259099 | insertion | Optical mapping | Optical mapping | No | HG00731 | GRCh38 (hg38) | NC_000001.11 | 1 | 779146 | 796325 | Submitted genomic | |||||||||
nstd152 | nssv14259100 | insertion | Optical mapping | Optical mapping | No | HG00732 | GRCh38 (hg38) | NC_000001.11 | 1 | 779146 | 796325 | Submitted genomic | |||||||||
nstd152 | nssv14259100 | insertion | Optical mapping | Optical mapping | No | HG00732 | GRCh38 (hg38) | NC_000001.11 | 1 | 779146 | 796325 | Submitted genomic | |||||||||
nstd152 | nssv14259101 | insertion | Optical mapping | Optical mapping | No | HG00733 | GRCh38 (hg38) | NC_000001.11 | 1 | 779146 | 796325 | Submitted genomic | |||||||||
nstd152 | nssv14259101 | insertion | Optical mapping | Optical mapping | No | HG00733 | GRCh38 (hg38) | NC_000001.11 | 1 | 779146 | 796325 | Submitted genomic | |||||||||
nstd152 | nssv14259102 | insertion | Optical mapping | Optical mapping | No | NA19238 | GRCh38 (hg38) | NC_000001.11 | 1 | 779146 | 796325 | Submitted genomic | |||||||||
nstd152 | nssv14259102 | insertion | Optical mapping | Optical mapping | No | NA19238 | GRCh38 (hg38) | NC_000001.11 | 1 | 779146 | 796325 | Submitted genomic | |||||||||
nstd152 | nssv14259103 | insertion | Optical mapping | Optical mapping | No | NA19239 | GRCh38 (hg38) | NC_000001.11 | 1 | 779146 | 796325 | Submitted genomic | |||||||||
nstd152 | nssv14259103 | insertion | Optical mapping | Optical mapping | No | NA19239 | GRCh38 (hg38) | NC_000001.11 | 1 | 779146 | 796325 | Submitted genomic | |||||||||
nstd152 | nssv14259104 | insertion | Optical mapping | Optical mapping | No | NA19240 | GRCh38 (hg38) | NC_000001.11 | 1 | 779146 | 796325 | Submitted genomic | |||||||||
nstd152 | nssv14259104 | insertion | Optical mapping | Optical mapping | No | NA19240 | GRCh38 (hg38) | NC_000001.11 | 1 | 779146 | 796325 | Submitted genomic | |||||||||
nstd152 | nssv14265855 | insertion | Optical mapping | Optical mapping | No | NA19239 | GRCh38 (hg38) | NC_000001.11 | 1 | 728601 | 742452 | Submitted genomic | |||||||||
nstd152 | nssv14265855 | insertion | Optical mapping | Optical mapping | No | NA19239 | GRCh38 (hg38) | NC_000001.11 | 1 | 728601 | 742452 | Submitted genomic | |||||||||
nstd152 | nssv14269922 | insertion | Optical mapping | Optical mapping | No | HG00514 | GRCh38 (hg38) | NC_000001.11 | 1 | 132349 | 142869 | Submitted genomic | |||||||||
nstd152 | nssv14269922 | insertion | Optical mapping | Optical mapping | No | HG00514 | GRCh38 (hg38) | NC_000001.11 | 1 | 132349 | 142869 | Submitted genomic | |||||||||
nstd152 | nssv14269923 | insertion | Optical mapping | Optical mapping | No | HG00731 | GRCh38 (hg38) | NC_000001.11 | 1 | 132349 | 142869 | Submitted genomic | |||||||||
nstd152 | nssv14269923 | insertion | Optical mapping | Optical mapping | No | HG00731 | GRCh38 (hg38) | NC_000001.11 | 1 | 132349 | 142869 | Submitted genomic | |||||||||
nstd152 | nssv14269924 | insertion | Optical mapping | Optical mapping | No | NA19240 | GRCh38 (hg38) | NC_000001.11 | 1 | 132349 | 142869 | Submitted genomic | |||||||||
nstd152 | nssv14269924 | insertion | Optical mapping | Optical mapping | No | NA19240 | GRCh38 (hg38) | NC_000001.11 | 1 | 132349 | 142869 | Submitted genomic | |||||||||
nstd152 | nssv14270314 | insertion | Optical mapping | Optical mapping | No | HG00514 | GRCh38 (hg38) | NC_000001.11 | 1 | 137901 | 142869 | Submitted genomic | |||||||||
nstd152 | nssv14270314 | insertion | Optical mapping | Optical mapping | No | HG00514 | GRCh38 (hg38) | NC_000001.11 | 1 | 137901 | 142869 | Submitted genomic | |||||||||
nstd152 | nssv14270315 | insertion | Optical mapping | Optical mapping | No | HG00733 | GRCh38 (hg38) | NC_000001.11 | 1 | 137901 | 142869 | Submitted genomic | |||||||||
nstd152 | nssv14270315 | insertion | Optical mapping | Optical mapping | No | HG00733 | GRCh38 (hg38) | NC_000001.11 | 1 | 137901 | 142869 | Submitted genomic | |||||||||
nstd152 | nssv14270316 | insertion | Optical mapping | Optical mapping | No | NA19240 | GRCh38 (hg38) | NC_000001.11 | 1 | 137901 | 142869 | Submitted genomic | |||||||||
nstd152 | nssv14270316 | insertion | Optical mapping | Optical mapping | No | NA19240 | GRCh38 (hg38) | NC_000001.11 | 1 | 137901 | 142869 | Submitted genomic | |||||||||
nstd152 | nssv14272837 | insertion | Optical mapping | Optical mapping | No | HG00514 | GRCh38 (hg38) | NC_000001.11 | 1 | 379971 | 396993 | Submitted genomic | |||||||||
nstd152 | nssv14272837 | insertion | Optical mapping | Optical mapping | No | HG00514 | GRCh38 (hg38) | NC_000001.11 | 1 | 379971 | 396993 | Submitted genomic | |||||||||
nstd152 | nssv14272838 | insertion | Optical mapping | Optical mapping | No | HG00732 | GRCh38 (hg38) | NC_000001.11 | 1 | 379971 | 396993 | Submitted genomic | |||||||||
nstd152 | nssv14272838 | insertion | Optical mapping | Optical mapping | No | HG00732 | GRCh38 (hg38) | NC_000001.11 | 1 | 379971 | 396993 | Submitted genomic | |||||||||
nstd152 | nssv14322117 | copy number variation | Sequencing | Sequence alignment | No | HG00512 | GRCh38 (hg38) | NC_000001.11 | 1 | 38481 | 41001 | 43521 | 77309 | 79829 | 82349 | Submitted genomic | |||||
nstd152 | nssv14322117 | copy number variation | Sequencing | Sequence alignment | No | HG00512 | GRCh38 (hg38) | NC_000001.11 | 1 | 38481 | 41001 | 43521 | 77309 | 79829 | 82349 | Submitted genomic | |||||
nstd152 | nssv14322118 | copy number variation | Sequencing | Sequence alignment | No | HG00513 | GRCh38 (hg38) | NC_000001.11 | 1 | 38481 | 41001 | 43521 | 77309 | 79829 | 82349 | Submitted genomic | |||||
nstd152 | nssv14322118 | copy number variation | Sequencing | Sequence alignment | No | HG00513 | GRCh38 (hg38) | NC_000001.11 | 1 | 38481 | 41001 | 43521 | 77309 | 79829 | 82349 | Submitted genomic | |||||
nstd152 | nssv14322119 | copy number variation | Sequencing | Sequence alignment | No | HG00514 | GRCh38 (hg38) | NC_000001.11 | 1 | 38481 | 41001 | 43521 | 77309 | 79829 | 82349 | Submitted genomic | |||||
nstd152 | nssv14322119 | copy number variation | Sequencing | Sequence alignment | No | HG00514 | GRCh38 (hg38) | NC_000001.11 | 1 | 38481 | 41001 | 43521 | 77309 | 79829 | 82349 | Submitted genomic | |||||
nstd152 | nssv14322120 | copy number variation | Sequencing | Sequence alignment | No | HG00731 | GRCh38 (hg38) | NC_000001.11 | 1 | 38481 | 41001 | 43521 | 77309 | 79829 | 82349 | Submitted genomic | |||||
nstd152 | nssv14322120 | copy number variation | Sequencing | Sequence alignment | No | HG00731 | GRCh38 (hg38) | NC_000001.11 | 1 | 38481 | 41001 | 43521 | 77309 | 79829 | 82349 | Submitted genomic | |||||
nstd152 | nssv14322121 | copy number variation | Sequencing | Sequence alignment | No | HG00732 | GRCh38 (hg38) | NC_000001.11 | 1 | 38481 | 41001 | 43521 | 77309 | 79829 | 82349 | Submitted genomic | |||||
nstd152 | nssv14322121 | copy number variation | Sequencing | Sequence alignment | No | HG00732 | GRCh38 (hg38) | NC_000001.11 | 1 | 38481 | 41001 | 43521 | 77309 | 79829 | 82349 | Submitted genomic | |||||
nstd152 | nssv14322122 | copy number variation | Sequencing | Sequence alignment | No | HG00733 | GRCh38 (hg38) | NC_000001.11 | 1 | 38481 | 41001 | 43521 | 77309 | 79829 | 82349 | Submitted genomic | |||||
nstd152 | nssv14322122 | copy number variation | Sequencing | Sequence alignment | No | HG00733 | GRCh38 (hg38) | NC_000001.11 | 1 | 38481 | 41001 | 43521 | 77309 | 79829 | 82349 | Submitted genomic | |||||
nstd152 | nssv14322123 | copy number variation | Sequencing | Sequence alignment | No | NA19238 | GRCh38 (hg38) | NC_000001.11 | 1 | 38481 | 41001 | 43521 | 77309 | 79829 | 82349 | Submitted genomic | |||||
nstd152 | nssv14322123 | copy number variation | Sequencing | Sequence alignment | No | NA19238 | GRCh38 (hg38) | NC_000001.11 | 1 | 38481 | 41001 | 43521 | 77309 | 79829 | 82349 | Submitted genomic | |||||
nstd152 | nssv14322124 | copy number variation | Sequencing | Sequence alignment | No | NA19239 | GRCh38 (hg38) | NC_000001.11 | 1 | 38481 | 41001 | 43521 | 77309 | 79829 | 82349 | Submitted genomic | |||||
nstd152 | nssv14322124 | copy number variation | Sequencing | Sequence alignment | No | NA19239 | GRCh38 (hg38) | NC_000001.11 | 1 | 38481 | 41001 | 43521 | 77309 | 79829 | 82349 | Submitted genomic | |||||
nstd152 | nssv14322125 | copy number variation | Sequencing | Sequence alignment | No | NA19240 | GRCh38 (hg38) | NC_000001.11 | 1 | 38481 | 41001 | 43521 | 77309 | 79829 | 82349 | Submitted genomic | |||||
nstd152 | nssv14322125 | copy number variation | Sequencing | Sequence alignment | No | NA19240 | GRCh38 (hg38) | NC_000001.11 | 1 | 38481 | 41001 | 43521 | 77309 | 79829 | 82349 | Submitted genomic | |||||
nstd152 | nssv14353687 | duplication | Sequencing | Sequence alignment | No | HG00512 | GRCh38 (hg38) | NC_000001.11 | 1 | 766904 | 767233 | 767562 | 788410 | 788739 | 789068 | Submitted genomic | |||||
nstd152 | nssv14353687 | duplication | Sequencing | Sequence alignment | No | HG00512 | GRCh38 (hg38) | NC_000001.11 | 1 | 766904 | 767233 | 767562 | 788410 | 788739 | 789068 | Submitted genomic | |||||
nstd152 | nssv14353688 | duplication | Sequencing | Sequence alignment | No | HG00513 | GRCh38 (hg38) | NC_000001.11 | 1 | 766904 | 767233 | 767562 | 788410 | 788739 | 789068 | Submitted genomic | |||||
nstd152 | nssv14353688 | duplication | Sequencing | Sequence alignment | No | HG00513 | GRCh38 (hg38) | NC_000001.11 | 1 | 766904 | 767233 | 767562 | 788410 | 788739 | 789068 | Submitted genomic | |||||
nstd152 | nssv14353689 | duplication | Sequencing | Sequence alignment | No | HG00514 | GRCh38 (hg38) | NC_000001.11 | 1 | 766904 | 767233 | 767562 | 788410 | 788739 | 789068 | Submitted genomic | |||||
nstd152 | nssv14353689 | duplication | Sequencing | Sequence alignment | No | HG00514 | GRCh38 (hg38) | NC_000001.11 | 1 | 766904 | 767233 | 767562 | 788410 | 788739 | 789068 | Submitted genomic | |||||
nstd152 | nssv14353690 | duplication | Sequencing | Sequence alignment | No | HG00731 | GRCh38 (hg38) | NC_000001.11 | 1 | 766904 | 767233 | 767562 | 788410 | 788739 | 789068 | Submitted genomic | |||||
nstd152 | nssv14353690 | duplication | Sequencing | Sequence alignment | No | HG00731 | GRCh38 (hg38) | NC_000001.11 | 1 | 766904 | 767233 | 767562 | 788410 | 788739 | 789068 | Submitted genomic | |||||
nstd152 | nssv14353691 | duplication | Sequencing | Sequence alignment | No | HG00732 | GRCh38 (hg38) | NC_000001.11 | 1 | 766904 | 767233 | 767562 | 788410 | 788739 | 789068 | Submitted genomic | |||||
nstd152 | nssv14353691 | duplication | Sequencing | Sequence alignment | No | HG00732 | GRCh38 (hg38) | NC_000001.11 | 1 | 766904 | 767233 | 767562 | 788410 | 788739 | 789068 | Submitted genomic | |||||
nstd152 | nssv14353692 | duplication | Sequencing | Sequence alignment | No | HG00733 | GRCh38 (hg38) | NC_000001.11 | 1 | 766904 | 767233 | 767562 | 788410 | 788739 | 789068 | Submitted genomic | |||||
nstd152 | nssv14353692 | duplication | Sequencing | Sequence alignment | No | HG00733 | GRCh38 (hg38) | NC_000001.11 | 1 | 766904 | 767233 | 767562 | 788410 | 788739 | 789068 | Submitted genomic | |||||
nstd152 | nssv14353693 | duplication | Sequencing | Sequence alignment | No | NA19238 | GRCh38 (hg38) | NC_000001.11 | 1 | 766904 | 767233 | 767562 | 788410 | 788739 | 789068 | Submitted genomic | |||||
nstd152 | nssv14353693 | duplication | Sequencing | Sequence alignment | No | NA19238 | GRCh38 (hg38) | NC_000001.11 | 1 | 766904 | 767233 | 767562 | 788410 | 788739 | 789068 | Submitted genomic | |||||
nstd152 | nssv14353694 | duplication | Sequencing | Sequence alignment | No | NA19239 | GRCh38 (hg38) | NC_000001.11 | 1 | 766904 | 767233 | 767562 | 788410 | 788739 | 789068 | Submitted genomic | |||||
nstd152 | nssv14353694 | duplication | Sequencing | Sequence alignment | No | NA19239 | GRCh38 (hg38) | NC_000001.11 | 1 | 766904 | 767233 | 767562 | 788410 | 788739 | 789068 | Submitted genomic | |||||
nstd152 | nssv14353695 | duplication | Sequencing | Sequence alignment | No | NA19240 | GRCh38 (hg38) | NC_000001.11 | 1 | 766904 | 767233 | 767562 | 788410 | 788739 | 789068 | Submitted genomic | |||||
nstd152 | nssv14353695 | duplication | Sequencing | Sequence alignment | No | NA19240 | GRCh38 (hg38) | NC_000001.11 | 1 | 766904 | 767233 | 767562 | 788410 | 788739 | 789068 | Submitted genomic | |||||
nstd152 | nssv14360498 | deletion | Sequencing | Sequence alignment | No | HG00733 | GRCh38 (hg38) | NC_000001.11 | 1 | 820561 | 820573 | 820585 | 820876 | 820888 | 820900 | Submitted genomic | |||||
nstd152 | nssv14360498 | deletion | Sequencing | Sequence alignment | No | HG00733 | GRCh38 (hg38) | NC_000001.11 | 1 | 820561 | 820573 | 820585 | 820876 | 820888 | 820900 | Submitted genomic | |||||
nstd152 | nssv14360499 | deletion | Sequencing | Sequence alignment | No | NA19240 | GRCh38 (hg38) | NC_000001.11 | 1 | 820561 | 820573 | 820585 | 820876 | 820888 | 820900 | Submitted genomic | |||||
nstd152 | nssv14360499 | deletion | Sequencing | Sequence alignment | No | NA19240 | GRCh38 (hg38) | NC_000001.11 | 1 | 820561 | 820573 | 820585 | 820876 | 820888 | 820900 | Submitted genomic | |||||
nstd152 | nssv14363176 | duplication | Sequencing | Sequence alignment | No | NA19239 | GRCh38 (hg38) | NC_000001.11 | 1 | 821822 | 822151 | 822480 | 826025 | 826354 | 826683 | Submitted genomic | |||||
nstd152 | nssv14363176 | duplication | Sequencing | Sequence alignment | No | NA19239 | GRCh38 (hg38) | NC_000001.11 | 1 | 821822 | 822151 | 822480 | 826025 | 826354 | 826683 | Submitted genomic | |||||
nstd152 | nssv14363177 | duplication | Sequencing | Sequence alignment | No | NA19240 | GRCh38 (hg38) | NC_000001.11 | 1 | 821822 | 822151 | 822480 | 826025 | 826354 | 826683 | Submitted genomic | |||||
nstd152 | nssv14363177 | duplication | Sequencing | Sequence alignment | No | NA19240 | GRCh38 (hg38) | NC_000001.11 | 1 | 821822 | 822151 | 822480 | 826025 | 826354 | 826683 | Submitted genomic | |||||
nstd152 | nssv14373294 | insertion | Merging | Merging | No | NA19240 | GRCh38 (hg38) | NC_000001.11 | 1 | 135720 | 135720 | Submitted genomic | |||||||||
nstd152 | nssv14373294 | insertion | Merging | Merging | No | NA19240 | GRCh38 (hg38) | NC_000001.11 | 1 | 135720 | 135720 | Submitted genomic | |||||||||
nstd152 | nssv14374853 | insertion | Merging | Merging | No | NA19240 | GRCh38 (hg38) | NC_000001.11 | 1 | 789481 | 789481 | Submitted genomic | |||||||||
nstd152 | nssv14374853 | insertion | Merging | Merging | No | NA19240 | GRCh38 (hg38) | NC_000001.11 | 1 | 789481 | 789481 | Submitted genomic |