nsv828480
- Organism: Homo sapiens
- Study:nstd67 (Park et al. 2010)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,841
- Publication(s):Park et al. 2010
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: 243 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 243 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv828480 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 19,727,015 | 19,728,855 |
| nsv828480 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 19,837,824 | 19,839,664 |
| nsv828480 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 19,698,824 | 19,700,664 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1422281 | copy number loss | NA18997 | Oligo aCGH | Probe signal intensity | 743 |
| nssv1423249 | copy number gain | NA18547 | Oligo aCGH | Probe signal intensity | 656 |
| nssv1423861 | copy number gain | NA18999 | Oligo aCGH | Probe signal intensity | 674 |
| nssv1426268 | copy number gain | AK4 | Oligo aCGH | Probe signal intensity | 712 |
| nssv1427943 | copy number loss | AK8 | Oligo aCGH | Probe signal intensity | 623 |
| nssv1429501 | copy number loss | AK12 | Oligo aCGH | Probe signal intensity | 596 |
| nssv1434798 | copy number gain | NA18570 | Oligo aCGH | Probe signal intensity | 629 |
| nssv1437127 | copy number gain | NA18542 | Oligo aCGH | Probe signal intensity | 805 |
| nssv1437857 | copy number gain | NA18949 | Oligo aCGH | Probe signal intensity | 640 |
| nssv1438521 | copy number gain | NA18951 | Oligo aCGH | Probe signal intensity | 589 |
| nssv1439381 | copy number gain | NA18973 | Oligo aCGH | Probe signal intensity | 782 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1422281 | Remapped | Perfect | NC_000019.10:g.(?_ 19727015)_(1972885 5_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 19,727,015 | 19,728,855 |
| nssv1423249 | Remapped | Perfect | NC_000019.10:g.(?_ 19727015)_(1972885 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 19,727,015 | 19,728,855 |
| nssv1423861 | Remapped | Perfect | NC_000019.10:g.(?_ 19727015)_(1972885 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 19,727,015 | 19,728,855 |
| nssv1426268 | Remapped | Perfect | NC_000019.10:g.(?_ 19727015)_(1972885 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 19,727,015 | 19,728,855 |
| nssv1427943 | Remapped | Perfect | NC_000019.10:g.(?_ 19727015)_(1972885 5_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 19,727,015 | 19,728,855 |
| nssv1429501 | Remapped | Perfect | NC_000019.10:g.(?_ 19727015)_(1972885 5_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 19,727,015 | 19,728,855 |
| nssv1434798 | Remapped | Perfect | NC_000019.10:g.(?_ 19727015)_(1972885 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 19,727,015 | 19,728,855 |
| nssv1437127 | Remapped | Perfect | NC_000019.10:g.(?_ 19727015)_(1972885 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 19,727,015 | 19,728,855 |
| nssv1437857 | Remapped | Perfect | NC_000019.10:g.(?_ 19727015)_(1972885 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 19,727,015 | 19,728,855 |
| nssv1438521 | Remapped | Perfect | NC_000019.10:g.(?_ 19727015)_(1972885 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 19,727,015 | 19,728,855 |
| nssv1439381 | Remapped | Perfect | NC_000019.10:g.(?_ 19727015)_(1972885 5_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 19,727,015 | 19,728,855 |
| nssv1422281 | Remapped | Perfect | NC_000019.9:g.(?_1 9837824)_(19839664 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 19,837,824 | 19,839,664 |
| nssv1423249 | Remapped | Perfect | NC_000019.9:g.(?_1 9837824)_(19839664 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 19,837,824 | 19,839,664 |
| nssv1423861 | Remapped | Perfect | NC_000019.9:g.(?_1 9837824)_(19839664 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 19,837,824 | 19,839,664 |
| nssv1426268 | Remapped | Perfect | NC_000019.9:g.(?_1 9837824)_(19839664 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 19,837,824 | 19,839,664 |
| nssv1427943 | Remapped | Perfect | NC_000019.9:g.(?_1 9837824)_(19839664 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 19,837,824 | 19,839,664 |
| nssv1429501 | Remapped | Perfect | NC_000019.9:g.(?_1 9837824)_(19839664 _?)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 19,837,824 | 19,839,664 |
| nssv1434798 | Remapped | Perfect | NC_000019.9:g.(?_1 9837824)_(19839664 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 19,837,824 | 19,839,664 |
| nssv1437127 | Remapped | Perfect | NC_000019.9:g.(?_1 9837824)_(19839664 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 19,837,824 | 19,839,664 |
| nssv1437857 | Remapped | Perfect | NC_000019.9:g.(?_1 9837824)_(19839664 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 19,837,824 | 19,839,664 |
| nssv1438521 | Remapped | Perfect | NC_000019.9:g.(?_1 9837824)_(19839664 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 19,837,824 | 19,839,664 |
| nssv1439381 | Remapped | Perfect | NC_000019.9:g.(?_1 9837824)_(19839664 _?)dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 19,837,824 | 19,839,664 |
| nssv1422281 | Submitted genomic | NC_000019.8:g.(?_1 9698824)_(19700664 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 19,698,824 | 19,700,664 | ||
| nssv1423249 | Submitted genomic | NC_000019.8:g.(?_1 9698824)_(19700664 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 19,698,824 | 19,700,664 | ||
| nssv1423861 | Submitted genomic | NC_000019.8:g.(?_1 9698824)_(19700664 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 19,698,824 | 19,700,664 | ||
| nssv1426268 | Submitted genomic | NC_000019.8:g.(?_1 9698824)_(19700664 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 19,698,824 | 19,700,664 | ||
| nssv1427943 | Submitted genomic | NC_000019.8:g.(?_1 9698824)_(19700664 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 19,698,824 | 19,700,664 | ||
| nssv1429501 | Submitted genomic | NC_000019.8:g.(?_1 9698824)_(19700664 _?)del | NCBI36 (hg18) | NC_000019.8 | Chr19 | 19,698,824 | 19,700,664 | ||
| nssv1434798 | Submitted genomic | NC_000019.8:g.(?_1 9698824)_(19700664 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 19,698,824 | 19,700,664 | ||
| nssv1437127 | Submitted genomic | NC_000019.8:g.(?_1 9698824)_(19700664 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 19,698,824 | 19,700,664 | ||
| nssv1437857 | Submitted genomic | NC_000019.8:g.(?_1 9698824)_(19700664 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 19,698,824 | 19,700,664 | ||
| nssv1438521 | Submitted genomic | NC_000019.8:g.(?_1 9698824)_(19700664 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 19,698,824 | 19,700,664 | ||
| nssv1439381 | Submitted genomic | NC_000019.8:g.(?_1 9698824)_(19700664 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 19,698,824 | 19,700,664 |