nsv544509
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,211,597
- Publication(s):Cooper 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: 12727 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 11765 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 3869 SVs from 40 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv544509 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 17,047,787 | 20,259,383 |
| nsv544509 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 17,528,677 | 20,246,906 |
| nsv544509 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 15,908,677 | 18,626,906 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1172331 | copy number gain | 9882214 | Oligo aCGH | Probe signal intensity | nssv1160752, nssv1168424 |
| nssv1172595 | copy number loss | 9887548 | Oligo aCGH | Probe signal intensity | nssv1162339, nssv1163070 |
| nssv1172596 | copy number gain | 9888417 | Oligo aCGH | Probe signal intensity | nssv1168006 |
| nssv1172597 | copy number gain | 9890472 | Oligo aCGH | Probe signal intensity | nssv1168425 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1172331 | Remapped | Pass | NC_000022.11:g.(?_ 17047787)_(2025938 3_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 17,047,787 | 20,259,383 |
| nssv1172595 | Remapped | Pass | NC_000022.11:g.(?_ 17047787)_(2025938 3_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 17,047,787 | 20,259,383 |
| nssv1172596 | Remapped | Pass | NC_000022.11:g.(?_ 17047787)_(2025938 3_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 17,047,787 | 20,259,383 |
| nssv1172597 | Remapped | Pass | NC_000022.11:g.(?_ 17047787)_(2025938 3_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 17,047,787 | 20,259,383 |
| nssv1172331 | Remapped | Perfect | NC_000022.10:g.(?_ 17528677)_(2024690 6_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 17,528,677 | 20,246,906 |
| nssv1172595 | Remapped | Perfect | NC_000022.10:g.(?_ 17528677)_(2024690 6_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 17,528,677 | 20,246,906 |
| nssv1172596 | Remapped | Perfect | NC_000022.10:g.(?_ 17528677)_(2024690 6_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 17,528,677 | 20,246,906 |
| nssv1172597 | Remapped | Perfect | NC_000022.10:g.(?_ 17528677)_(2024690 6_?)dup | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 17,528,677 | 20,246,906 |
| nssv1172331 | Submitted genomic | NC_000022.9:g.(?_1 5908677)_(18626906 _?)dup | NCBI36 (hg18) | NC_000022.9 | Chr22 | 15,908,677 | 18,626,906 | ||
| nssv1172595 | Submitted genomic | NC_000022.9:g.(?_1 5908677)_(18626906 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 15,908,677 | 18,626,906 | ||
| nssv1172596 | Submitted genomic | NC_000022.9:g.(?_1 5908677)_(18626906 _?)dup | NCBI36 (hg18) | NC_000022.9 | Chr22 | 15,908,677 | 18,626,906 | ||
| nssv1172597 | Submitted genomic | NC_000022.9:g.(?_1 5908677)_(18626906 _?)dup | NCBI36 (hg18) | NC_000022.9 | Chr22 | 15,908,677 | 18,626,906 |