nsv1189771
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:57,675
- Publication(s):Polyak et al. 2015
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: 928 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 287 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 928 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 433 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1189771 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 50,671,540 | 50,729,192 |
| nsv1189771 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_015148969.1 | Chr22|NW_0 15148969.1 | 7,634 | 65,308 |
| nsv1189771 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 51,109,968 | 51,167,620 |
| nsv1189771 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000022.9 | Chr22 | 49,456,834 | 49,514,486 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7460913 | copy number loss | 14715 | Oligo aCGH | Probe signal intensity | nssv7461767 |
| nssv7461266 | copy number loss | 16922 | Oligo aCGH | Probe signal intensity | nssv7460233 |
| nssv7465447 | copy number loss | 14868 | Oligo aCGH | Probe signal intensity | nssv7470209, nssv7462390, nssv7466774 |
| nssv7465909 | copy number loss | 16867 | Oligo aCGH | Probe signal intensity | nssv7470648 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7460913 | Remapped | Good | NW_015148969.1:g.( ?_7634)_(65308_?)d el | GRCh38.p12 | Second Pass | NW_015148969.1 | Chr22|NW_0 15148969.1 | 7,634 | 65,308 |
| nssv7461266 | Remapped | Good | NW_015148969.1:g.( ?_7634)_(65308_?)d el | GRCh38.p12 | Second Pass | NW_015148969.1 | Chr22|NW_0 15148969.1 | 7,634 | 65,308 |
| nssv7465447 | Remapped | Good | NW_015148969.1:g.( ?_7634)_(65308_?)d el | GRCh38.p12 | Second Pass | NW_015148969.1 | Chr22|NW_0 15148969.1 | 7,634 | 65,308 |
| nssv7465909 | Remapped | Good | NW_015148969.1:g.( ?_7634)_(65308_?)d el | GRCh38.p12 | Second Pass | NW_015148969.1 | Chr22|NW_0 15148969.1 | 7,634 | 65,308 |
| nssv7460913 | Remapped | Perfect | NC_000022.11:g.(?_ 50671540)_(5072919 2_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 50,671,540 | 50,729,192 |
| nssv7461266 | Remapped | Perfect | NC_000022.11:g.(?_ 50671540)_(5072919 2_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 50,671,540 | 50,729,192 |
| nssv7465447 | Remapped | Perfect | NC_000022.11:g.(?_ 50671540)_(5072919 2_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 50,671,540 | 50,729,192 |
| nssv7465909 | Remapped | Perfect | NC_000022.11:g.(?_ 50671540)_(5072919 2_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 50,671,540 | 50,729,192 |
| nssv7460913 | Remapped | Perfect | NC_000022.10:g.(?_ 51109968)_(5116762 0_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 51,109,968 | 51,167,620 |
| nssv7461266 | Remapped | Perfect | NC_000022.10:g.(?_ 51109968)_(5116762 0_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 51,109,968 | 51,167,620 |
| nssv7465447 | Remapped | Perfect | NC_000022.10:g.(?_ 51109968)_(5116762 0_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 51,109,968 | 51,167,620 |
| nssv7465909 | Remapped | Perfect | NC_000022.10:g.(?_ 51109968)_(5116762 0_?)del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 51,109,968 | 51,167,620 |
| nssv7460913 | Submitted genomic | NC_000022.9:g.(?_4 9456834)_(49514486 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 49,456,834 | 49,514,486 | ||
| nssv7461266 | Submitted genomic | NC_000022.9:g.(?_4 9456834)_(49514486 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 49,456,834 | 49,514,486 | ||
| nssv7465447 | Submitted genomic | NC_000022.9:g.(?_4 9456834)_(49514486 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 49,456,834 | 49,514,486 | ||
| nssv7465909 | Submitted genomic | NC_000022.9:g.(?_4 9456834)_(49514486 _?)del | NCBI36 (hg18) | NC_000022.9 | Chr22 | 49,456,834 | 49,514,486 |