nsv514855
- Organism: Homo sapiens
- Study:nstd46 (Campbell et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:7,905
- 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: 197 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 196 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 37 SVs from 15 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv514855 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 59,032,713 | 59,040,617 |
| nsv514855 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 57,110,074 | 57,117,978 |
| nsv514855 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 54,464,856 | 54,472,760 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv2834943 | copy number loss | NA18942 | Oligo aCGH | Probe signal intensity | 0 | 448 |
| nssv2834944 | copy number loss | NA18956 | Oligo aCGH | Probe signal intensity | 1 | 445 |
| nssv2834945 | copy number loss | NA18959 | Oligo aCGH | Probe signal intensity | 1 | 468 |
| nssv2834946 | copy number loss | NA18974 | Oligo aCGH | Probe signal intensity | 1 | 486 |
| nssv2834947 | copy number loss | NA18994 | Oligo aCGH | Probe signal intensity | 1 | 478 |
| nssv2834948 | copy number loss | NA21439 | Oligo aCGH | Probe signal intensity | 1 | 486 |
| nssv2834949 | copy number loss | NA21447 | Oligo aCGH | Probe signal intensity | 1 | 484 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2834943 | Remapped | Perfect | NC_000017.11:g.(?_ 59032713)_(5904061 7_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,713 | 59,040,617 |
| nssv2834944 | Remapped | Perfect | NC_000017.11:g.(?_ 59032713)_(5904061 7_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,713 | 59,040,617 |
| nssv2834945 | Remapped | Perfect | NC_000017.11:g.(?_ 59032713)_(5904061 7_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,713 | 59,040,617 |
| nssv2834946 | Remapped | Perfect | NC_000017.11:g.(?_ 59032713)_(5904061 7_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,713 | 59,040,617 |
| nssv2834947 | Remapped | Perfect | NC_000017.11:g.(?_ 59032713)_(5904061 7_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,713 | 59,040,617 |
| nssv2834948 | Remapped | Perfect | NC_000017.11:g.(?_ 59032713)_(5904061 7_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,713 | 59,040,617 |
| nssv2834949 | Remapped | Perfect | NC_000017.11:g.(?_ 59032713)_(5904061 7_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 59,032,713 | 59,040,617 |
| nssv2834943 | Remapped | Perfect | NC_000017.10:g.(?_ 57110074)_(5711797 8_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,074 | 57,117,978 |
| nssv2834944 | Remapped | Perfect | NC_000017.10:g.(?_ 57110074)_(5711797 8_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,074 | 57,117,978 |
| nssv2834945 | Remapped | Perfect | NC_000017.10:g.(?_ 57110074)_(5711797 8_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,074 | 57,117,978 |
| nssv2834946 | Remapped | Perfect | NC_000017.10:g.(?_ 57110074)_(5711797 8_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,074 | 57,117,978 |
| nssv2834947 | Remapped | Perfect | NC_000017.10:g.(?_ 57110074)_(5711797 8_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,074 | 57,117,978 |
| nssv2834948 | Remapped | Perfect | NC_000017.10:g.(?_ 57110074)_(5711797 8_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,074 | 57,117,978 |
| nssv2834949 | Remapped | Perfect | NC_000017.10:g.(?_ 57110074)_(5711797 8_?)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 57,110,074 | 57,117,978 |
| nssv2834943 | Submitted genomic | NC_000017.9:g.(?_5 4464856)_(54472760 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,464,856 | 54,472,760 | ||
| nssv2834944 | Submitted genomic | NC_000017.9:g.(?_5 4464856)_(54472760 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,464,856 | 54,472,760 | ||
| nssv2834945 | Submitted genomic | NC_000017.9:g.(?_5 4464856)_(54472760 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,464,856 | 54,472,760 | ||
| nssv2834946 | Submitted genomic | NC_000017.9:g.(?_5 4464856)_(54472760 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,464,856 | 54,472,760 | ||
| nssv2834947 | Submitted genomic | NC_000017.9:g.(?_5 4464856)_(54472760 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,464,856 | 54,472,760 | ||
| nssv2834948 | Submitted genomic | NC_000017.9:g.(?_5 4464856)_(54472760 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,464,856 | 54,472,760 | ||
| nssv2834949 | Submitted genomic | NC_000017.9:g.(?_5 4464856)_(54472760 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 54,464,856 | 54,472,760 |