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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| nstd93 | nssv3397476 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | AR888-03 | BARDET-BIEDL SYNDROME 1; BBS1 | Pathogenic | GRCh37 (hg19) | NC_000011.9 | 11 | 66274840 | 66292574 | Submitted genomic | |||||||
| nstd93 | nssv3397476 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | AR888-03 | BARDET-BIEDL SYNDROME 1; BBS1 | Pathogenic | GRCh37 (hg19) | NC_000011.9 | 11 | 66274840 | 66292574 | Submitted genomic | |||||||
| nstd93 | nssv3397476 | copy number loss | Oligo aCGH | Probe signal intensity | Yes | AR888-03 | BARDET-BIEDL SYNDROME 1; BBS1 | Pathogenic | GRCh38.p12 | NC_000011.10 | 11 | 66507369 | 66525103 | Remapped | 1 |