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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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
nstd52 | nssv628513 | copy number loss | SNP array | SNP genotyping analysis | Yes | 86827 | None | Pathogenic | GRCh37.p13 | NC_000006.11 | 6 | 131615425 | 131619935 | 132218134 | 132228577 | Remapped | 1 | ||||
nstd52 | nssv628513 | copy number loss | SNP array | SNP genotyping analysis | Yes | 86827 | None | Pathogenic | GRCh37.p13 | NC_000006.11 | 6 | 131615425 | 131619935 | 132218134 | 132228577 | Remapped | 1 | ||||
nstd52 | nssv628513 | copy number loss | SNP array | SNP genotyping analysis | Yes | 86827 | None | Pathogenic | GRCh38.p12 | NC_000006.12 | 6 | 131294285 | 131298795 | 131896994 | 131907437 | Remapped | 1 | ||||
nstd52 | nssv628513 | copy number loss | SNP array | SNP genotyping analysis | Yes | 86827 | None | Pathogenic | NCBI36 (hg18) | NC_000006.10 | 6 | 131657118 | 131661628 | 132259827 | 132270270 | Submitted genomic | |||||
nstd52 | nsv515476 | copy number variation | Yes | GRCh37.p13 | NC_000006.11 | 6 | 131615425 | 131619935 | 132218134 | 132228577 | Remapped | 1 | |||||||||
nstd52 | nsv515476 | copy number variation | Yes | GRCh37.p13 | NC_000006.11 | 6 | 131615425 | 131619935 | 132218134 | 132228577 | Remapped | 1 | |||||||||
nstd52 | nsv515476 | copy number variation | Yes | GRCh38.p12 | NC_000006.12 | 6 | 131294285 | 131298795 | 131896994 | 131907437 | Remapped | 1 | |||||||||
nstd52 | nsv515476 | copy number variation | Yes | NCBI36 (hg18) | NC_000006.10 | 6 | 131657118 | 131661628 | 132259827 | 132270270 | Submitted genomic |