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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| nstd89 | nssv3217055 | mobile element insertion | Sequencing | Sequence alignment | No | 1 | Chronic granulomatous disease, X-linked | Pathogenic | GRCh37 (hg19) | NC_000023.10 | X | 37640282 | 37640282 | Submitted genomic | |||||||
| nstd89 | nssv3217055 | mobile element insertion | Sequencing | Sequence alignment | No | 1 | Chronic granulomatous disease, X-linked | Pathogenic | GRCh37 (hg19) | NC_000023.10 | X | 37640282 | 37640282 | Submitted genomic | |||||||
| nstd89 | nssv3217055 | mobile element insertion | Sequencing | Sequence alignment | No | 1 | Chronic granulomatous disease, X-linked | Pathogenic | GRCh38.p12 | NC_000023.11 | X | 37781029 | 37781029 | Remapped | 1 |