nsv428149
- Organism: Homo sapiens
- Study:nstd8 (Perry et al. 2008b)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:19
- Validation:Not tested
- Clinical Assertions: No
- Region Size:209,288
- Publication(s):Perry et al. 2008
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: 3132 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 3132 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 1488 SVs from 34 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv428149 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,180,759 | 78,390,046 |
| nsv428149 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 78,890,476 | 79,099,763 |
| nsv428149 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 78,947,195 | 79,156,482 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv450783 | copy number gain | NA19113 | BAC aCGH | Probe signal intensity | 122 |
| nssv450784 | copy number gain | HGDP00449 | BAC aCGH | Probe signal intensity | 126 |
| nssv450785 | copy number gain | HGDP00450 | BAC aCGH | Probe signal intensity | 88 |
| nssv450787 | copy number gain | HGDP00462 | BAC aCGH | Probe signal intensity | 83 |
| nssv450788 | copy number gain | HGDP00463 | BAC aCGH | Probe signal intensity | 90 |
| nssv450789 | copy number gain | HGDP00467 | BAC aCGH | Probe signal intensity | 75 |
| nssv450790 | copy number gain | HGDP00472 | BAC aCGH | Probe signal intensity | 65 |
| nssv450791 | copy number gain | HGDP00473 | BAC aCGH | Probe signal intensity | 64 |
| nssv450792 | copy number gain | HGDP00984 | BAC aCGH | Probe signal intensity | 75 |
| nssv450793 | copy number gain | HGDP00986 | BAC aCGH | Probe signal intensity | 82 |
| nssv450794 | copy number gain | HGDP01086 | BAC aCGH | Probe signal intensity | 52 |
| nssv450795 | copy number gain | HGDP01087 | BAC aCGH | Probe signal intensity | 75 |
| nssv450796 | copy number gain | HGDP01089 | BAC aCGH | Probe signal intensity | 65 |
| nssv450799 | copy number gain | HGDP01093 | BAC aCGH | Probe signal intensity | 95 |
| nssv450800 | copy number gain | HGDP01094 | BAC aCGH | Probe signal intensity | 92 |
| nssv450801 | copy number gain | NA18498 | BAC aCGH | Probe signal intensity | 97 |
| nssv450802 | copy number gain | NA18916 | BAC aCGH | Probe signal intensity | 90 |
| nssv450803 | copy number gain | NA19096 | BAC aCGH | Probe signal intensity | 100 |
| nssv450804 | copy number gain | NA19108 | BAC aCGH | Probe signal intensity | 84 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv450783 | Remapped | Perfect | NC_000006.12:g.(?_ 78180759)_(7834994 2_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,180,759 | 78,349,942 |
| nssv450784 | Remapped | Perfect | NC_000006.12:g.(?_ 78180759)_(7839004 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,180,759 | 78,390,046 |
| nssv450785 | Remapped | Perfect | NC_000006.12:g.(?_ 78180759)_(7839004 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,180,759 | 78,390,046 |
| nssv450787 | Remapped | Perfect | NC_000006.12:g.(?_ 78180759)_(7839004 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,180,759 | 78,390,046 |
| nssv450788 | Remapped | Perfect | NC_000006.12:g.(?_ 78180759)_(7839004 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,180,759 | 78,390,046 |
| nssv450789 | Remapped | Perfect | NC_000006.12:g.(?_ 78180759)_(7839004 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,180,759 | 78,390,046 |
| nssv450790 | Remapped | Perfect | NC_000006.12:g.(?_ 78180759)_(7839004 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,180,759 | 78,390,046 |
| nssv450791 | Remapped | Perfect | NC_000006.12:g.(?_ 78180759)_(7839004 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,180,759 | 78,390,046 |
| nssv450792 | Remapped | Perfect | NC_000006.12:g.(?_ 78180759)_(7839004 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,180,759 | 78,390,046 |
| nssv450793 | Remapped | Perfect | NC_000006.12:g.(?_ 78180759)_(7839004 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,180,759 | 78,390,046 |
| nssv450794 | Remapped | Perfect | NC_000006.12:g.(?_ 78180759)_(7839004 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,180,759 | 78,390,046 |
| nssv450795 | Remapped | Perfect | NC_000006.12:g.(?_ 78180759)_(7839004 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,180,759 | 78,390,046 |
| nssv450796 | Remapped | Perfect | NC_000006.12:g.(?_ 78180759)_(7839004 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,180,759 | 78,390,046 |
| nssv450799 | Remapped | Perfect | NC_000006.12:g.(?_ 78180759)_(7839004 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,180,759 | 78,390,046 |
| nssv450800 | Remapped | Perfect | NC_000006.12:g.(?_ 78180759)_(7839004 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,180,759 | 78,390,046 |
| nssv450801 | Remapped | Perfect | NC_000006.12:g.(?_ 78180759)_(7839004 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,180,759 | 78,390,046 |
| nssv450802 | Remapped | Perfect | NC_000006.12:g.(?_ 78180759)_(7839004 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,180,759 | 78,390,046 |
| nssv450803 | Remapped | Perfect | NC_000006.12:g.(?_ 78180759)_(7839004 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,180,759 | 78,390,046 |
| nssv450804 | Remapped | Perfect | NC_000006.12:g.(?_ 78180759)_(7839004 6_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,180,759 | 78,390,046 |
| nssv450783 | Remapped | Perfect | NC_000006.11:g.(?_ 78890476)_(7905965 9_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,890,476 | 79,059,659 |
| nssv450784 | Remapped | Perfect | NC_000006.11:g.(?_ 78890476)_(7909976 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,890,476 | 79,099,763 |
| nssv450785 | Remapped | Perfect | NC_000006.11:g.(?_ 78890476)_(7909976 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,890,476 | 79,099,763 |
| nssv450787 | Remapped | Perfect | NC_000006.11:g.(?_ 78890476)_(7909976 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,890,476 | 79,099,763 |
| nssv450788 | Remapped | Perfect | NC_000006.11:g.(?_ 78890476)_(7909976 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,890,476 | 79,099,763 |
| nssv450789 | Remapped | Perfect | NC_000006.11:g.(?_ 78890476)_(7909976 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,890,476 | 79,099,763 |
| nssv450790 | Remapped | Perfect | NC_000006.11:g.(?_ 78890476)_(7909976 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,890,476 | 79,099,763 |
| nssv450791 | Remapped | Perfect | NC_000006.11:g.(?_ 78890476)_(7909976 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,890,476 | 79,099,763 |
| nssv450792 | Remapped | Perfect | NC_000006.11:g.(?_ 78890476)_(7909976 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,890,476 | 79,099,763 |
| nssv450793 | Remapped | Perfect | NC_000006.11:g.(?_ 78890476)_(7909976 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,890,476 | 79,099,763 |
| nssv450794 | Remapped | Perfect | NC_000006.11:g.(?_ 78890476)_(7909976 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,890,476 | 79,099,763 |
| nssv450795 | Remapped | Perfect | NC_000006.11:g.(?_ 78890476)_(7909976 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,890,476 | 79,099,763 |
| nssv450796 | Remapped | Perfect | NC_000006.11:g.(?_ 78890476)_(7909976 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,890,476 | 79,099,763 |
| nssv450799 | Remapped | Perfect | NC_000006.11:g.(?_ 78890476)_(7909976 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,890,476 | 79,099,763 |
| nssv450800 | Remapped | Perfect | NC_000006.11:g.(?_ 78890476)_(7909976 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,890,476 | 79,099,763 |
| nssv450801 | Remapped | Perfect | NC_000006.11:g.(?_ 78890476)_(7909976 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,890,476 | 79,099,763 |
| nssv450802 | Remapped | Perfect | NC_000006.11:g.(?_ 78890476)_(7909976 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,890,476 | 79,099,763 |
| nssv450803 | Remapped | Perfect | NC_000006.11:g.(?_ 78890476)_(7909976 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,890,476 | 79,099,763 |
| nssv450804 | Remapped | Perfect | NC_000006.11:g.(?_ 78890476)_(7909976 3_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,890,476 | 79,099,763 |
| nssv450783 | Submitted genomic | NC_000006.10:g.(?_ 78947195)_(7911637 8_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,947,195 | 79,116,378 | ||
| nssv450784 | Submitted genomic | NC_000006.10:g.(?_ 78947195)_(7915648 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,947,195 | 79,156,482 | ||
| nssv450785 | Submitted genomic | NC_000006.10:g.(?_ 78947195)_(7915648 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,947,195 | 79,156,482 | ||
| nssv450787 | Submitted genomic | NC_000006.10:g.(?_ 78947195)_(7915648 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,947,195 | 79,156,482 | ||
| nssv450788 | Submitted genomic | NC_000006.10:g.(?_ 78947195)_(7915648 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,947,195 | 79,156,482 | ||
| nssv450789 | Submitted genomic | NC_000006.10:g.(?_ 78947195)_(7915648 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,947,195 | 79,156,482 | ||
| nssv450790 | Submitted genomic | NC_000006.10:g.(?_ 78947195)_(7915648 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,947,195 | 79,156,482 | ||
| nssv450791 | Submitted genomic | NC_000006.10:g.(?_ 78947195)_(7915648 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,947,195 | 79,156,482 | ||
| nssv450792 | Submitted genomic | NC_000006.10:g.(?_ 78947195)_(7915648 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,947,195 | 79,156,482 | ||
| nssv450793 | Submitted genomic | NC_000006.10:g.(?_ 78947195)_(7915648 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,947,195 | 79,156,482 | ||
| nssv450794 | Submitted genomic | NC_000006.10:g.(?_ 78947195)_(7915648 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,947,195 | 79,156,482 | ||
| nssv450795 | Submitted genomic | NC_000006.10:g.(?_ 78947195)_(7915648 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,947,195 | 79,156,482 | ||
| nssv450796 | Submitted genomic | NC_000006.10:g.(?_ 78947195)_(7915648 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,947,195 | 79,156,482 | ||
| nssv450799 | Submitted genomic | NC_000006.10:g.(?_ 78947195)_(7915648 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,947,195 | 79,156,482 | ||
| nssv450800 | Submitted genomic | NC_000006.10:g.(?_ 78947195)_(7915648 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,947,195 | 79,156,482 | ||
| nssv450801 | Submitted genomic | NC_000006.10:g.(?_ 78947195)_(7915648 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,947,195 | 79,156,482 | ||
| nssv450802 | Submitted genomic | NC_000006.10:g.(?_ 78947195)_(7915648 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,947,195 | 79,156,482 | ||
| nssv450803 | Submitted genomic | NC_000006.10:g.(?_ 78947195)_(7915648 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,947,195 | 79,156,482 | ||
| nssv450804 | Submitted genomic | NC_000006.10:g.(?_ 78947195)_(7915648 2_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,947,195 | 79,156,482 |