nsv1191094
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:203,614
- 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: 1156 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1156 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 363 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1191094 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 28,822,174 | 29,025,787 |
| nsv1191094 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 28,833,495 | 29,037,108 |
| nsv1191094 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 28,740,996 | 28,944,609 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7459353 | copy number loss | 16262 | Oligo aCGH | Probe signal intensity | nssv7470369 |
| nssv7460093 | copy number loss | 29539 | Oligo aCGH | Probe signal intensity | nssv7474006 |
| nssv7463154 | copy number gain | 31311 | Oligo aCGH | Probe signal intensity | nssv7475433, nssv7467218, nssv7474844 |
| nssv7466896 | copy number loss | 18940 | Oligo aCGH | Probe signal intensity | nssv7463057, nssv7462083, nssv7470315 |
| nssv7467102 | copy number gain | 23321 | Oligo aCGH | Probe signal intensity | nssv7460015, nssv7469445 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7459353 | Remapped | Perfect | NC_000016.10:g.(?_ 28822174)_(2902578 7_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 28,822,174 | 29,025,787 |
| nssv7460093 | Remapped | Perfect | NC_000016.10:g.(?_ 28822174)_(2902578 7_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 28,822,174 | 29,025,787 |
| nssv7463154 | Remapped | Perfect | NC_000016.10:g.(?_ 28822174)_(2902578 7_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 28,822,174 | 29,025,787 |
| nssv7466896 | Remapped | Perfect | NC_000016.10:g.(?_ 28822174)_(2902578 7_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 28,822,174 | 29,025,787 |
| nssv7467102 | Remapped | Perfect | NC_000016.10:g.(?_ 28822174)_(2902578 7_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 28,822,174 | 29,025,787 |
| nssv7459353 | Remapped | Perfect | NC_000016.9:g.(?_2 8833495)_(29037108 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 28,833,495 | 29,037,108 |
| nssv7460093 | Remapped | Perfect | NC_000016.9:g.(?_2 8833495)_(29037108 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 28,833,495 | 29,037,108 |
| nssv7463154 | Remapped | Perfect | NC_000016.9:g.(?_2 8833495)_(29037108 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 28,833,495 | 29,037,108 |
| nssv7466896 | Remapped | Perfect | NC_000016.9:g.(?_2 8833495)_(29037108 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 28,833,495 | 29,037,108 |
| nssv7467102 | Remapped | Perfect | NC_000016.9:g.(?_2 8833495)_(29037108 _?)dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 28,833,495 | 29,037,108 |
| nssv7459353 | Submitted genomic | NC_000016.8:g.(?_2 8740996)_(28944609 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 28,740,996 | 28,944,609 | ||
| nssv7460093 | Submitted genomic | NC_000016.8:g.(?_2 8740996)_(28944609 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 28,740,996 | 28,944,609 | ||
| nssv7463154 | Submitted genomic | NC_000016.8:g.(?_2 8740996)_(28944609 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 28,740,996 | 28,944,609 | ||
| nssv7466896 | Submitted genomic | NC_000016.8:g.(?_2 8740996)_(28944609 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 28,740,996 | 28,944,609 | ||
| nssv7467102 | Submitted genomic | NC_000016.8:g.(?_2 8740996)_(28944609 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 28,740,996 | 28,944,609 |