nsv603871
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:68,957
- Publication(s):Cooper et al. 2011
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2398 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 2398 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1063 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv603871 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,332,440 |
| nsv603871 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,042,157 |
| nsv603871 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 79,029,920 | 79,098,876 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1066480 | copy number loss | SNP array | SNP genotyping analysis | ||
| nssv1066481 | copy number loss | SNP array | SNP genotyping analysis | ||
| nssv1066482 | copy number loss | SNP array | SNP genotyping analysis | ||
| nssv1066483 | copy number loss | SNP array | SNP genotyping analysis | ||
| nssv1154359 | copy number loss | HGDP00092 | SNP array | SNP genotyping analysis | 13 |
| nssv1154360 | copy number loss | HGDP00149 | SNP array | SNP genotyping analysis | nssv1155829, nssv1149393 |
| nssv1154361 | copy number loss | HGDP00673 | SNP array | SNP genotyping analysis | nssv1148835, nssv1149935, nssv1175840 |
| nssv1154362 | copy number loss | HGDP00753 | SNP array | SNP genotyping analysis | 6 |
| nssv1154363 | copy number loss | 1780854063_A | SNP array | SNP genotyping analysis | 6 |
| nssv1154364 | copy number loss | 1780854477_A | SNP array | SNP genotyping analysis | 15 |
| nssv1154365 | copy number gain | 1780862401_A | SNP array | SNP genotyping analysis | 7 |
| nssv1154366 | copy number loss | 1782681109_A | SNP array | SNP genotyping analysis | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1066480 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7833244 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,332,440 |
| nssv1066481 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7833244 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,332,440 |
| nssv1066482 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7833244 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,332,440 |
| nssv1066483 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7833244 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,332,440 |
| nssv1154359 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7833244 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,332,440 |
| nssv1154360 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7833244 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,332,440 |
| nssv1154361 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7833244 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,332,440 |
| nssv1154362 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7833244 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,332,440 |
| nssv1154363 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7833244 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,332,440 |
| nssv1154364 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7833244 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,332,440 |
| nssv1154365 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7833244 0_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,332,440 |
| nssv1154366 | Remapped | Perfect | NC_000006.12:g.(?_ 78263484)_(7833244 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,263,484 | 78,332,440 |
| nssv1066480 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7904215 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,042,157 |
| nssv1066481 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7904215 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,042,157 |
| nssv1066482 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7904215 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,042,157 |
| nssv1066483 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7904215 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,042,157 |
| nssv1154359 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7904215 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,042,157 |
| nssv1154360 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7904215 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,042,157 |
| nssv1154361 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7904215 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,042,157 |
| nssv1154362 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7904215 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,042,157 |
| nssv1154363 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7904215 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,042,157 |
| nssv1154364 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7904215 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,042,157 |
| nssv1154365 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7904215 7_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,042,157 |
| nssv1154366 | Remapped | Perfect | NC_000006.11:g.(?_ 78973201)_(7904215 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,973,201 | 79,042,157 |
| nssv1066480 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7909887 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,098,876 | ||
| nssv1066481 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7909887 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,098,876 | ||
| nssv1066482 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7909887 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,098,876 | ||
| nssv1066483 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7909887 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,098,876 | ||
| nssv1154359 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7909887 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,098,876 | ||
| nssv1154360 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7909887 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,098,876 | ||
| nssv1154361 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7909887 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,098,876 | ||
| nssv1154362 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7909887 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,098,876 | ||
| nssv1154363 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7909887 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,098,876 | ||
| nssv1154364 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7909887 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,098,876 | ||
| nssv1154365 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7909887 6_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,098,876 | ||
| nssv1154366 | Submitted genomic | NC_000006.10:g.(?_ 79029920)_(7909887 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,029,920 | 79,098,876 |