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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
nstd23 | nssv1671904 | deletion | MLPA | Probe signal intensity | No | GM00946 | GRCh38.p12 | NC_000001.11 | 1 | 248626178 | 248627128 | Remapped | 1 | ||||||||
nstd23 | nssv1671905 | duplication | MLPA | Probe signal intensity | No | GM10471 | GRCh38.p12 | NC_000001.11 | 1 | 248521647 | 248522597 | Remapped | 1 | ||||||||
nstd23 | nssv1671906 | deletion | MLPA | Probe signal intensity | No | GM17034 | GRCh38.p12 | NC_000001.11 | 1 | 248626178 | 248627128 | Remapped | 1 | ||||||||
nstd23 | nssv1671907 | deletion | MLPA | Probe signal intensity | No | GM10492 | GRCh38.p12 | NC_000001.11 | 1 | 248626178 | 248627128 | Remapped | 1 | ||||||||
nstd23 | nssv1671908 | deletion | MLPA | Probe signal intensity | No | GM01814 | GRCh38.p12 | NC_000001.11 | 1 | 248626178 | 248627128 | Remapped | 1 | ||||||||
nstd23 | nssv1671909 | deletion | MLPA | Probe signal intensity | No | GM10975 | GRCh38.p12 | NC_000001.11 | 1 | 248626178 | 248627128 | Remapped | 1 | ||||||||
nstd23 | nssv1671910 | deletion | Sequencing | Sequence alignment | Yes | GM17035 | GRCh38.p12 | NC_000011.10 | 11 | 4946926 | 4955538 | Remapped | 1 | ||||||||
nstd23 | nssv1671911 | deletion | MLPA | Probe signal intensity | No | GM14492 | GRCh38.p12 | NC_000001.11 | 1 | 248626178 | 248627128 | Remapped | 1 | ||||||||
nstd23 | nssv1671912 | deletion | MLPA | Probe signal intensity | No | GM11376 | GRCh38.p12 | NC_000001.11 | 1 | 248626178 | 248627128 | Remapped | 1 | ||||||||
nstd23 | nssv1671913 | deletion | Sequencing | Sequence alignment | Yes | GM17036 | GRCh38.p12 | NC_000011.10 | 11 | 4946926 | 4955538 | Remapped | 1 | ||||||||
nstd23 | nssv1671914 | deletion | MLPA | Probe signal intensity | No | GM11524 | GRCh38.p12 | NC_000001.11 | 1 | 248626178 | 248627128 | Remapped | 1 | ||||||||
nstd23 | nssv1671915 | deletion | Sequencing | Sequence alignment | Yes | GM01805 | GRCh38.p12 | NC_000011.10 | 11 | 4946926 | 4955538 | Remapped | 1 | ||||||||
nstd23 | nssv1671916 | deletion | Sequencing | Sequence alignment | Yes | GM10542 | GRCh38.p12 | NC_000011.10 | 11 | 4946926 | 4955538 | Remapped | 1 | ||||||||
nstd23 | nssv1671917 | deletion | Sequencing | Sequence alignment | Yes | GM11525 | GRCh38.p12 | NC_000011.10 | 11 | 4946926 | 4955538 | Remapped | 1 | ||||||||
nstd23 | nssv1671918 | deletion | Sequencing | Sequence alignment | Yes | GM10543 | GRCh38.p12 | NC_000011.10 | 11 | 4946926 | 4955538 | Remapped | 1 | ||||||||
nstd23 | nssv1671919 | deletion | Sequencing | Sequence alignment | Yes | GM17033 | GRCh38.p12 | NC_000011.10 | 11 | 4946926 | 4955538 | Remapped | 1 | ||||||||
nstd23 | nssv1671920 | deletion | Sequencing | Sequence alignment | Yes | GM10976 | GRCh38.p12 | NC_000011.10 | 11 | 4946926 | 4955538 | Remapped | 1 | ||||||||
nstd23 | nssv1671921 | deletion | Sequencing | Sequence alignment | Yes | GM17040 | GRCh38.p12 | NC_000011.10 | 11 | 4946926 | 4955538 | Remapped | 1 | ||||||||
nstd23 | nssv1671922 | deletion | Sequencing | Sequence alignment | Yes | GM01953 | GRCh38.p12 | NC_000011.10 | 11 | 4946926 | 4955538 | Remapped | 1 | ||||||||
nstd23 | nssv1671923 | deletion | Sequencing | Sequence alignment | Yes | GM17039 | GRCh38.p12 | NC_000011.10 | 11 | 4946926 | 4955538 | Remapped | 1 | ||||||||
nstd23 | nssv1671924 | deletion | Sequencing | Sequence alignment | Yes | GM17037 | GRCh38.p12 | NC_000011.10 | 11 | 4946926 | 4955538 | Remapped | 1 | ||||||||
nstd23 | nssv1671925 | deletion | Sequencing | Sequence alignment | Yes | GM00946 | GRCh38.p12 | NC_000011.10 | 11 | 4946926 | 4955538 | Remapped | 1 | ||||||||
nstd23 | nssv1671926 | deletion | Sequencing | Sequence alignment | Yes | GM09948 | GRCh38.p12 | NC_000011.10 | 11 | 4946926 | 4955538 | Remapped | 1 | ||||||||
nstd23 | nssv1671927 | deletion | Sequencing | Sequence alignment | Yes | GM10541 | GRCh38.p12 | NC_000011.10 | 11 | 4946926 | 4955538 | Remapped | 1 | ||||||||
nstd23 | nssv1671928 | deletion | Sequencing | Sequence alignment | Yes | GM10965 | GRCh38.p12 | NC_000011.10 | 11 | 4946926 | 4955538 | Remapped | 1 | ||||||||
nstd23 | nssv1671929 | deletion | Sequencing | Sequence alignment | Yes | GM17031 | GRCh38.p12 | NC_000011.10 | 11 | 5763345 | 5788053 | Remapped | 1 | ||||||||
nstd23 | nssv1671930 | deletion | Sequencing | Sequence alignment | Yes | GM10470 | GRCh38.p12 | NC_000011.10 | 11 | 5763345 | 5788053 | Remapped | 1 | ||||||||
nstd23 | nssv1671931 | deletion | Sequencing | Sequence alignment | Yes | GM11373 | GRCh38.p12 | NC_000011.10 | 11 | 4946926 | 4955538 | Remapped | 1 | ||||||||
nstd23 | nssv1671932 | deletion | Sequencing | Sequence alignment | Yes | GM10966 | GRCh38.p12 | NC_000011.10 | 11 | 4946926 | 4955538 | Remapped | 1 | ||||||||
nstd23 | nssv1671933 | deletion | Sequencing | Sequence alignment | Yes | GM10471 | GRCh38.p12 | NC_000011.10 | 11 | 5763345 | 5788053 | Remapped | 1 | ||||||||
nstd23 | nssv1671934 | deletion | Sequencing | Sequence alignment | Yes | GM10979 | GRCh38.p12 | NC_000011.10 | 11 | 4946926 | 4955538 | Remapped | 1 | ||||||||
nstd23 | nssv1671935 | deletion | Sequencing | Sequence alignment | Yes | GM17035 | GRCh38.p12 | NC_000011.10 | 11 | 5763345 | 5788053 | Remapped | 1 | ||||||||
nstd23 | nssv1671936 | deletion | Sequencing | Sequence alignment | Yes | GM17032 | GRCh38.p12 | NC_000011.10 | 11 | 5763345 | 5788053 | Remapped | 1 | ||||||||
nstd23 | nssv1671937 | deletion | Sequencing | Sequence alignment | Yes | GM17033 | GRCh38.p12 | NC_000011.10 | 11 | 5763345 | 5788053 | Remapped | 1 | ||||||||
nstd23 | nssv1671938 | deletion | Sequencing | Sequence alignment | Yes | GM17036 | GRCh38.p12 | NC_000011.10 | 11 | 5763345 | 5788053 | Remapped | 1 | ||||||||
nstd23 | nssv1671939 | deletion | Sequencing | Sequence alignment | Yes | GM17039 | GRCh38.p12 | NC_000011.10 | 11 | 5763345 | 5788053 | Remapped | 1 | ||||||||
nstd23 | nssv1671940 | deletion | Sequencing | Sequence alignment | Yes | GM11525 | GRCh38.p12 | NC_000011.10 | 11 | 5763345 | 5788053 | Remapped | 1 | ||||||||
nstd23 | nssv1671941 | deletion | Sequencing | Sequence alignment | Yes | GM01953 | GRCh38.p12 | NC_000011.10 | 11 | 5763345 | 5788053 | Remapped | 1 | ||||||||
nstd23 | nssv1671942 | deletion | Sequencing | Sequence alignment | Yes | GM17040 | GRCh38.p12 | NC_000011.10 | 11 | 5763345 | 5788053 | Remapped | 1 | ||||||||
nstd23 | nssv1671943 | deletion | Sequencing | Sequence alignment | Yes | GM00893 | GRCh38.p12 | NC_000011.10 | 11 | 5763345 | 5788053 | Remapped | 1 | ||||||||
nstd23 | nssv1671944 | deletion | Sequencing | Sequence alignment | Yes | GM11373 | GRCh38.p12 | NC_000011.10 | 11 | 5763345 | 5788053 | Remapped | 1 | ||||||||
nstd23 | nssv1671945 | deletion | Sequencing | Sequence alignment | Yes | GM10541 | GRCh38.p12 | NC_000011.10 | 11 | 5763345 | 5788053 | Remapped | 1 | ||||||||
nstd23 | nssv1671946 | deletion | Sequencing | Sequence alignment | Yes | GM11375 | GRCh38.p12 | NC_000011.10 | 11 | 5763345 | 5788053 | Remapped | 1 | ||||||||
nstd23 | nssv1671947 | deletion | Sequencing | Sequence alignment | Yes | GM10965 | GRCh38.p12 | NC_000011.10 | 11 | 5763345 | 5788053 | Remapped | 1 | ||||||||
nstd23 | nssv1671948 | deletion | Sequencing | Sequence alignment | Yes | GM10978 | GRCh38.p12 | NC_000011.10 | 11 | 5763345 | 5788053 | Remapped | 1 | ||||||||
nstd23 | nssv1671949 | deletion | Sequencing | Sequence alignment | Yes | GM10968 | GRCh38.p12 | NC_000011.10 | 11 | 5763345 | 5788053 | Remapped | 1 | ||||||||
nstd23 | nssv1671950 | deletion | Sequencing | Sequence alignment | Yes | GM10967 | GRCh38.p12 | NC_000011.10 | 11 | 5763345 | 5788053 | Remapped | 1 | ||||||||
nstd23 | nssv1671951 | deletion | Sequencing | Sequence alignment | Yes | GM10471 | GRCh38.p12 | NC_000011.10 | 11 | 5852755 | 5862263 | Remapped | 1 | ||||||||
nstd23 | nssv1671952 | deletion | Sequencing | Sequence alignment | Yes | GM10469 | GRCh38.p12 | NC_000011.10 | 11 | 5852755 | 5862263 | Remapped | 1 | ||||||||
nstd23 | nssv1671953 | deletion | Sequencing | Sequence alignment | Yes | GM10493 | GRCh38.p12 | NC_000011.10 | 11 | 5852755 | 5862263 | Remapped | 1 | ||||||||
nstd23 | nssv1671954 | deletion | Sequencing | Sequence alignment | Yes | GM17035 | GRCh38.p12 | NC_000011.10 | 11 | 5852755 | 5862263 | Remapped | 1 | ||||||||
nstd23 | nssv1671955 | deletion | Sequencing | Sequence alignment | Yes | GM10966 | GRCh38.p12 | NC_000011.10 | 11 | 5763345 | 5788053 | Remapped | 1 | ||||||||
nstd23 | nssv1671956 | deletion | Sequencing | Sequence alignment | Yes | GM17039 | GRCh38.p12 | NC_000011.10 | 11 | 5852755 | 5862263 | Remapped | 1 | ||||||||
nstd23 | nssv1671957 | deletion | Sequencing | Sequence alignment | Yes | GM01806 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671958 | deletion | Sequencing | Sequence alignment | Yes | GM17040 | GRCh38.p12 | NC_000011.10 | 11 | 5852755 | 5862263 | Remapped | 1 | ||||||||
nstd23 | nssv1671959 | deletion | Sequencing | Sequence alignment | Yes | GM10472 | GRCh38.p12 | NC_000011.10 | 11 | 5852755 | 5862263 | Remapped | 1 | ||||||||
nstd23 | nssv1671960 | deletion | Sequencing | Sequence alignment | Yes | GM10540 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671961 | deletion | Sequencing | Sequence alignment | Yes | GM10541 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671962 | deletion | Sequencing | Sequence alignment | Yes | GM10543 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671963 | deletion | Sequencing | Sequence alignment | Yes | GM10976 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671964 | deletion | Sequencing | Sequence alignment | Yes | GM10978 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671965 | deletion | Sequencing | Sequence alignment | Yes | GM10969 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671966 | deletion | Sequencing | Sequence alignment | Yes | GM10473 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671967 | deletion | Sequencing | Sequence alignment | Yes | GM17033 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671968 | deletion | Sequencing | Sequence alignment | Yes | GM17036 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671969 | deletion | Sequencing | Sequence alignment | Yes | GM17040 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671970 | deletion | Sequencing | Sequence alignment | Yes | GM09948 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671971 | deletion | Sequencing | Sequence alignment | Yes | GM01805 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671972 | deletion | Sequencing | Sequence alignment | Yes | GM11522 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671973 | deletion | Sequencing | Sequence alignment | Yes | GM11523 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671974 | deletion | Sequencing | Sequence alignment | Yes | GM10534 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671975 | deletion | Sequencing | Sequence alignment | Yes | GM01814 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671976 | deletion | Sequencing | Sequence alignment | Yes | GM11524 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671977 | deletion | Sequencing | Sequence alignment | Yes | GM11373 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671978 | deletion | Sequencing | Sequence alignment | Yes | GM10975 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671979 | deletion | Sequencing | Sequence alignment | Yes | GM10542 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671980 | deletion | Sequencing | Sequence alignment | Yes | GM10968 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671981 | deletion | Sequencing | Sequence alignment | Yes | GM10965 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671982 | deletion | Sequencing | Sequence alignment | Yes | GM10539 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671983 | deletion | Sequencing | Sequence alignment | Yes | GM10979 | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | ||||||||
nstd23 | nssv1671984 | deletion | Sequencing | Sequence alignment | Yes | GM11377 | GRCh38.p12 | NC_000011.10 | 11 | 56376094 | 56376095 | Remapped | 1 | ||||||||
nstd23 | nssv1671985 | deletion | Sequencing | Sequence alignment | Yes | GM10473 | GRCh38.p12 | NC_000011.10 | 11 | 56376094 | 56376095 | Remapped | 1 | ||||||||
nstd23 | nssv1671986 | deletion | Sequencing | Sequence alignment | Yes | GM10493 | GRCh38.p12 | NC_000011.10 | 11 | 56376094 | 56376095 | Remapped | 1 | ||||||||
nstd23 | nssv1671987 | deletion | Sequencing | Sequence alignment | Yes | GM09948 | GRCh38.p12 | NC_000011.10 | 11 | 56376094 | 56376095 | Remapped | 1 | ||||||||
nstd23 | nssv1671988 | deletion | Sequencing | Sequence alignment | Yes | GM11521 | GRCh38.p12 | NC_000011.10 | 11 | 56376094 | 56376095 | Remapped | 1 | ||||||||
nstd23 | nssv1671989 | deletion | Sequencing | Sequence alignment | Yes | GM14492 | GRCh38.p12 | NC_000011.10 | 11 | 56376094 | 56376095 | Remapped | 1 | ||||||||
nstd23 | nssv1671990 | deletion | Sequencing | Sequence alignment | Yes | GM17036 | GRCh38.p12 | NC_000011.10 | 11 | 56376094 | 56376095 | Remapped | 1 | ||||||||
nstd23 | nssv1671991 | deletion | Sequencing | Sequence alignment | Yes | GM11373 | GRCh38.p12 | NC_000011.10 | 11 | 56376094 | 56376095 | Remapped | 1 | ||||||||
nstd23 | nssv1671992 | deletion | Sequencing | Sequence alignment | Yes | GM10976 | GRCh38.p12 | NC_000011.10 | 11 | 56376094 | 56376095 | Remapped | 1 | ||||||||
nstd23 | nssv1671993 | deletion | Sequencing | Sequence alignment | Yes | GM10494 | GRCh38.p12 | NC_000011.10 | 11 | 56376094 | 56376095 | Remapped | 1 | ||||||||
nstd23 | nssv1671994 | deletion | Sequencing | Sequence alignment | Yes | GM10965 | GRCh38.p12 | NC_000011.10 | 11 | 56376094 | 56376095 | Remapped | 1 | ||||||||
nstd23 | nssv1671995 | deletion | Sequencing | Sequence alignment | Yes | GM17034 | GRCh38.p12 | NC_000011.10 | 11 | 56703068 | 56703069 | Remapped | 1 | ||||||||
nstd23 | nsv442997 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 248521647 | 248522597 | Remapped | 1 | |||||||||||
nstd23 | nsv442999 | copy number variation | No | GRCh38.p12 | NC_000001.11 | 1 | 248626178 | 248627128 | Remapped | 1 | |||||||||||
nstd23 | nsv443000 | copy number variation | Yes | GRCh38.p12 | NC_000011.10 | 11 | 4946926 | 4955538 | Remapped | 1 | |||||||||||
nstd23 | nsv443001 | copy number variation | Yes | GRCh38.p12 | NC_000011.10 | 11 | 5763345 | 5788053 | Remapped | 1 | |||||||||||
nstd23 | nsv443002 | copy number variation | Yes | GRCh38.p12 | NC_000011.10 | 11 | 5852755 | 5862263 | Remapped | 1 | |||||||||||
nstd23 | nsv443003 | complex substitution | Yes | GRCh38.p12 | NC_000011.10 | 11 | 55597042 | 55690279 | Remapped | 1 | |||||||||||
nstd23 | nsv443004 | copy number variation | Yes | GRCh38.p12 | NC_000011.10 | 11 | 56376094 | 56376095 | Remapped | 1 | |||||||||||
nstd23 | nsv443005 | copy number variation | Yes | GRCh38.p12 | NC_000011.10 | 11 | 56703068 | 56703069 | Remapped | 1 |