nsv514234
- Organism: Homo sapiens
- Study:nstd46 (Campbell et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,609
- 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: 243 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 243 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 69 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv514234 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 97,252,786 | 97,262,394 |
| nsv514234 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 98,173,937 | 98,183,545 |
| nsv514234 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 98,392,960 | 98,402,568 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv2916394 | copy number loss | NA18542 | Oligo aCGH | Probe signal intensity | 1 | 440 |
| nssv2916395 | copy number loss | NA18562 | Oligo aCGH | Probe signal intensity | 1 | 468 |
| nssv2916396 | copy number loss | NA18564 | Oligo aCGH | Probe signal intensity | 1 | 441 |
| nssv2916397 | copy number loss | NA18582 | Oligo aCGH | Probe signal intensity | 1 | 446 |
| nssv2916398 | copy number loss | NA18603 | Oligo aCGH | Probe signal intensity | 0 | 465 |
| nssv2916399 | copy number loss | NA18605 | Oligo aCGH | Probe signal intensity | 1 | 471 |
| nssv2916400 | copy number loss | NA18612 | Oligo aCGH | Probe signal intensity | 1 | 471 |
| nssv2916401 | copy number loss | NA18940 | Oligo aCGH | Probe signal intensity | 1 | 470 |
| nssv2916402 | copy number loss | NA18948 | Oligo aCGH | Probe signal intensity | 1 | 466 |
| nssv2916403 | copy number loss | NA18959 | Oligo aCGH | Probe signal intensity | 1 | 468 |
| nssv2916404 | copy number loss | NA18974 | Oligo aCGH | Probe signal intensity | 1 | 486 |
| nssv2916405 | copy number loss | NA18998 | Oligo aCGH | Probe signal intensity | 1 | 453 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2916394 | Remapped | Perfect | NC_000004.12:g.(?_ 97252786)_(9726239 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,252,786 | 97,262,394 |
| nssv2916395 | Remapped | Perfect | NC_000004.12:g.(?_ 97252786)_(9726239 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,252,786 | 97,262,394 |
| nssv2916396 | Remapped | Perfect | NC_000004.12:g.(?_ 97252786)_(9726239 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,252,786 | 97,262,394 |
| nssv2916397 | Remapped | Perfect | NC_000004.12:g.(?_ 97252786)_(9726239 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,252,786 | 97,262,394 |
| nssv2916398 | Remapped | Perfect | NC_000004.12:g.(?_ 97252786)_(9726239 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,252,786 | 97,262,394 |
| nssv2916399 | Remapped | Perfect | NC_000004.12:g.(?_ 97252786)_(9726239 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,252,786 | 97,262,394 |
| nssv2916400 | Remapped | Perfect | NC_000004.12:g.(?_ 97252786)_(9726239 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,252,786 | 97,262,394 |
| nssv2916401 | Remapped | Perfect | NC_000004.12:g.(?_ 97252786)_(9726239 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,252,786 | 97,262,394 |
| nssv2916402 | Remapped | Perfect | NC_000004.12:g.(?_ 97252786)_(9726239 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,252,786 | 97,262,394 |
| nssv2916403 | Remapped | Perfect | NC_000004.12:g.(?_ 97252786)_(9726239 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,252,786 | 97,262,394 |
| nssv2916404 | Remapped | Perfect | NC_000004.12:g.(?_ 97252786)_(9726239 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,252,786 | 97,262,394 |
| nssv2916405 | Remapped | Perfect | NC_000004.12:g.(?_ 97252786)_(9726239 4_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 97,252,786 | 97,262,394 |
| nssv2916394 | Remapped | Perfect | NC_000004.11:g.(?_ 98173937)_(9818354 5_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 98,173,937 | 98,183,545 |
| nssv2916395 | Remapped | Perfect | NC_000004.11:g.(?_ 98173937)_(9818354 5_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 98,173,937 | 98,183,545 |
| nssv2916396 | Remapped | Perfect | NC_000004.11:g.(?_ 98173937)_(9818354 5_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 98,173,937 | 98,183,545 |
| nssv2916397 | Remapped | Perfect | NC_000004.11:g.(?_ 98173937)_(9818354 5_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 98,173,937 | 98,183,545 |
| nssv2916398 | Remapped | Perfect | NC_000004.11:g.(?_ 98173937)_(9818354 5_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 98,173,937 | 98,183,545 |
| nssv2916399 | Remapped | Perfect | NC_000004.11:g.(?_ 98173937)_(9818354 5_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 98,173,937 | 98,183,545 |
| nssv2916400 | Remapped | Perfect | NC_000004.11:g.(?_ 98173937)_(9818354 5_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 98,173,937 | 98,183,545 |
| nssv2916401 | Remapped | Perfect | NC_000004.11:g.(?_ 98173937)_(9818354 5_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 98,173,937 | 98,183,545 |
| nssv2916402 | Remapped | Perfect | NC_000004.11:g.(?_ 98173937)_(9818354 5_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 98,173,937 | 98,183,545 |
| nssv2916403 | Remapped | Perfect | NC_000004.11:g.(?_ 98173937)_(9818354 5_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 98,173,937 | 98,183,545 |
| nssv2916404 | Remapped | Perfect | NC_000004.11:g.(?_ 98173937)_(9818354 5_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 98,173,937 | 98,183,545 |
| nssv2916405 | Remapped | Perfect | NC_000004.11:g.(?_ 98173937)_(9818354 5_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 98,173,937 | 98,183,545 |
| nssv2916394 | Submitted genomic | NC_000004.10:g.(?_ 98392960)_(9840256 8_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 98,392,960 | 98,402,568 | ||
| nssv2916395 | Submitted genomic | NC_000004.10:g.(?_ 98392960)_(9840256 8_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 98,392,960 | 98,402,568 | ||
| nssv2916396 | Submitted genomic | NC_000004.10:g.(?_ 98392960)_(9840256 8_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 98,392,960 | 98,402,568 | ||
| nssv2916397 | Submitted genomic | NC_000004.10:g.(?_ 98392960)_(9840256 8_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 98,392,960 | 98,402,568 | ||
| nssv2916398 | Submitted genomic | NC_000004.10:g.(?_ 98392960)_(9840256 8_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 98,392,960 | 98,402,568 | ||
| nssv2916399 | Submitted genomic | NC_000004.10:g.(?_ 98392960)_(9840256 8_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 98,392,960 | 98,402,568 | ||
| nssv2916400 | Submitted genomic | NC_000004.10:g.(?_ 98392960)_(9840256 8_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 98,392,960 | 98,402,568 | ||
| nssv2916401 | Submitted genomic | NC_000004.10:g.(?_ 98392960)_(9840256 8_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 98,392,960 | 98,402,568 | ||
| nssv2916402 | Submitted genomic | NC_000004.10:g.(?_ 98392960)_(9840256 8_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 98,392,960 | 98,402,568 | ||
| nssv2916403 | Submitted genomic | NC_000004.10:g.(?_ 98392960)_(9840256 8_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 98,392,960 | 98,402,568 | ||
| nssv2916404 | Submitted genomic | NC_000004.10:g.(?_ 98392960)_(9840256 8_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 98,392,960 | 98,402,568 | ||
| nssv2916405 | Submitted genomic | NC_000004.10:g.(?_ 98392960)_(9840256 8_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 98,392,960 | 98,402,568 |