nsv470237
- Organism: Homo sapiens
- Study:nstd30 (Jakobsson et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:174,573
- Publication(s):Jakobsson et al. 2008
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1350 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1350 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 491 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv470237 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 136,664,840 | 136,839,412 |
| nsv470237 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 137,677,083 | 137,851,655 |
| nsv470237 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 137,746,265 | 137,920,837 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| nssv546767 | copy number loss | HGDP00072 | SNP array | SNP genotyping analysis | 1 | Heterozygous | 6 |
| nssv546766 | copy number loss | HGDP01386 | SNP array | SNP genotyping analysis | 1 | Heterozygous | 7 |
| nssv546768 | copy number loss | HGDP00622 | SNP array | SNP genotyping analysis | 1 | Heterozygous | 6 |
| nssv546769 | copy number loss | HGDP00559 | SNP array | SNP genotyping analysis | 1 | Heterozygous | 7 |
| nssv546770 | copy number loss | HGDP00564 | SNP array | SNP genotyping analysis | 1 | Heterozygous | 9 |
| nssv546771 | copy number loss | HGDP00584 | SNP array | SNP genotyping analysis | 1 | Heterozygous | 7 |
| nssv546772 | copy number loss | HGDP00330 | SNP array | SNP genotyping analysis | 1 | Heterozygous | 6 |
| nssv546773 | copy number loss | HGDP00892 | SNP array | SNP genotyping analysis | 1 | Heterozygous | 14 |
| nssv546774 | copy number loss | HGDP00076 | SNP array | SNP genotyping analysis | Homozygous | nssv544944, nssv545233, nssv546205 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv546767 | Remapped | Perfect | NC_000008.11:g.(?_ 136664840)_(136839 412_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,664,840 | 136,839,412 |
| nssv546766 | Remapped | Perfect | NC_000008.11:g.(?_ 136675712)_(136839 412_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,675,712 | 136,839,412 |
| nssv546768 | Remapped | Perfect | NC_000008.11:g.(?_ 136675712)_(136839 412_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,675,712 | 136,839,412 |
| nssv546769 | Remapped | Perfect | NC_000008.11:g.(?_ 136675712)_(136839 412_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,675,712 | 136,839,412 |
| nssv546770 | Remapped | Perfect | NC_000008.11:g.(?_ 136675712)_(136839 412_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,675,712 | 136,839,412 |
| nssv546771 | Remapped | Perfect | NC_000008.11:g.(?_ 136675712)_(136839 412_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,675,712 | 136,839,412 |
| nssv546772 | Remapped | Perfect | NC_000008.11:g.(?_ 136675712)_(136839 412_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,675,712 | 136,839,412 |
| nssv546773 | Remapped | Perfect | NC_000008.11:g.(?_ 136675712)_(136839 412_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,675,712 | 136,839,412 |
| nssv546774 | Remapped | Perfect | NC_000008.11:g.(?_ 136675712)_(136839 412_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 136,675,712 | 136,839,412 |
| nssv546767 | Remapped | Perfect | NC_000008.10:g.(?_ 137677083)_(137851 655_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,677,083 | 137,851,655 |
| nssv546766 | Remapped | Perfect | NC_000008.10:g.(?_ 137687955)_(137851 655_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,687,955 | 137,851,655 |
| nssv546768 | Remapped | Perfect | NC_000008.10:g.(?_ 137687955)_(137851 655_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,687,955 | 137,851,655 |
| nssv546769 | Remapped | Perfect | NC_000008.10:g.(?_ 137687955)_(137851 655_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,687,955 | 137,851,655 |
| nssv546770 | Remapped | Perfect | NC_000008.10:g.(?_ 137687955)_(137851 655_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,687,955 | 137,851,655 |
| nssv546771 | Remapped | Perfect | NC_000008.10:g.(?_ 137687955)_(137851 655_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,687,955 | 137,851,655 |
| nssv546772 | Remapped | Perfect | NC_000008.10:g.(?_ 137687955)_(137851 655_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,687,955 | 137,851,655 |
| nssv546773 | Remapped | Perfect | NC_000008.10:g.(?_ 137687955)_(137851 655_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,687,955 | 137,851,655 |
| nssv546774 | Remapped | Perfect | NC_000008.10:g.(?_ 137687955)_(137851 655_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 137,687,955 | 137,851,655 |
| nssv546767 | Submitted genomic | NC_000008.9:g.(?_1 37746265)_(1379208 37_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,746,265 | 137,920,837 | ||
| nssv546766 | Submitted genomic | NC_000008.9:g.(?_1 37757137)_(1379208 37_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,757,137 | 137,920,837 | ||
| nssv546768 | Submitted genomic | NC_000008.9:g.(?_1 37757137)_(1379208 37_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,757,137 | 137,920,837 | ||
| nssv546769 | Submitted genomic | NC_000008.9:g.(?_1 37757137)_(1379208 37_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,757,137 | 137,920,837 | ||
| nssv546770 | Submitted genomic | NC_000008.9:g.(?_1 37757137)_(1379208 37_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,757,137 | 137,920,837 | ||
| nssv546771 | Submitted genomic | NC_000008.9:g.(?_1 37757137)_(1379208 37_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,757,137 | 137,920,837 | ||
| nssv546772 | Submitted genomic | NC_000008.9:g.(?_1 37757137)_(1379208 37_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,757,137 | 137,920,837 | ||
| nssv546773 | Submitted genomic | NC_000008.9:g.(?_1 37757137)_(1379208 37_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,757,137 | 137,920,837 | ||
| nssv546774 | Submitted genomic | NC_000008.9:g.(?_1 37757137)_(1379208 37_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 137,757,137 | 137,920,837 |