nsv514685
- Organism: Homo sapiens
- Study:nstd46 (Campbell et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:45,697
- Publication(s):Campbell 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: 333 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 333 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 68 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv514685 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 99,583,699 | 99,629,395 |
| nsv514685 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 99,977,477 | 100,023,173 |
| nsv514685 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 98,501,608 | 98,547,304 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv2789954 | copy number loss | NA21360 | Oligo aCGH | Probe signal intensity | 1 | 433 |
| nssv2790034 | copy number loss | NA21362 | Oligo aCGH | Probe signal intensity | 1 | 450 |
| nssv2790784 | copy number loss | NA21359 | Oligo aCGH | Probe signal intensity | 1 | 476 |
| nssv2792625 | copy number loss | NA21581 | Oligo aCGH | Probe signal intensity | 1 | 468 |
| nssv2794106 | copy number loss | NA21390 | Oligo aCGH | Probe signal intensity | 1 | 469 |
| nssv2795297 | copy number loss | NA21526 | Oligo aCGH | Probe signal intensity | 1 | 451 |
| nssv2797856 | copy number loss | NA21686 | Oligo aCGH | Probe signal intensity | 1 | 450 |
| nssv2797944 | copy number loss | NA21361 | Oligo aCGH | Probe signal intensity | 1 | 454 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2789954 | Remapped | Perfect | NC_000012.12:g.(?_ 99583699)_(9962939 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 99,583,699 | 99,629,395 |
| nssv2790034 | Remapped | Perfect | NC_000012.12:g.(?_ 99583699)_(9962939 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 99,583,699 | 99,629,395 |
| nssv2790784 | Remapped | Perfect | NC_000012.12:g.(?_ 99583699)_(9962939 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 99,583,699 | 99,629,395 |
| nssv2792625 | Remapped | Perfect | NC_000012.12:g.(?_ 99583699)_(9962939 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 99,583,699 | 99,629,395 |
| nssv2794106 | Remapped | Perfect | NC_000012.12:g.(?_ 99583699)_(9962939 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 99,583,699 | 99,629,395 |
| nssv2795297 | Remapped | Perfect | NC_000012.12:g.(?_ 99583699)_(9962939 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 99,583,699 | 99,629,395 |
| nssv2797856 | Remapped | Perfect | NC_000012.12:g.(?_ 99583699)_(9962939 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 99,583,699 | 99,629,395 |
| nssv2797944 | Remapped | Perfect | NC_000012.12:g.(?_ 99583699)_(9962939 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 99,583,699 | 99,629,395 |
| nssv2789954 | Remapped | Perfect | NC_000012.11:g.(?_ 99977477)_(1000231 73_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 99,977,477 | 100,023,173 |
| nssv2790034 | Remapped | Perfect | NC_000012.11:g.(?_ 99977477)_(1000231 73_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 99,977,477 | 100,023,173 |
| nssv2790784 | Remapped | Perfect | NC_000012.11:g.(?_ 99977477)_(1000231 73_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 99,977,477 | 100,023,173 |
| nssv2792625 | Remapped | Perfect | NC_000012.11:g.(?_ 99977477)_(1000231 73_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 99,977,477 | 100,023,173 |
| nssv2794106 | Remapped | Perfect | NC_000012.11:g.(?_ 99977477)_(1000231 73_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 99,977,477 | 100,023,173 |
| nssv2795297 | Remapped | Perfect | NC_000012.11:g.(?_ 99977477)_(1000231 73_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 99,977,477 | 100,023,173 |
| nssv2797856 | Remapped | Perfect | NC_000012.11:g.(?_ 99977477)_(1000231 73_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 99,977,477 | 100,023,173 |
| nssv2797944 | Remapped | Perfect | NC_000012.11:g.(?_ 99977477)_(1000231 73_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 99,977,477 | 100,023,173 |
| nssv2789954 | Submitted genomic | NC_000012.10:g.(?_ 98501608)_(9854730 4_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 98,501,608 | 98,547,304 | ||
| nssv2790034 | Submitted genomic | NC_000012.10:g.(?_ 98501608)_(9854730 4_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 98,501,608 | 98,547,304 | ||
| nssv2790784 | Submitted genomic | NC_000012.10:g.(?_ 98501608)_(9854730 4_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 98,501,608 | 98,547,304 | ||
| nssv2792625 | Submitted genomic | NC_000012.10:g.(?_ 98501608)_(9854730 4_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 98,501,608 | 98,547,304 | ||
| nssv2794106 | Submitted genomic | NC_000012.10:g.(?_ 98501608)_(9854730 4_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 98,501,608 | 98,547,304 | ||
| nssv2795297 | Submitted genomic | NC_000012.10:g.(?_ 98501608)_(9854730 4_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 98,501,608 | 98,547,304 | ||
| nssv2797856 | Submitted genomic | NC_000012.10:g.(?_ 98501608)_(9854730 4_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 98,501,608 | 98,547,304 | ||
| nssv2797944 | Submitted genomic | NC_000012.10:g.(?_ 98501608)_(9854730 4_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 98,501,608 | 98,547,304 |