nsv1196731
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:422,558
- 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: 1412 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 454 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 1412 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 398 SVs from 27 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1196731 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 166,263,024 | 166,685,581 |
| nsv1196731 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187536.1 | Chr3|NT_18 7536.1 | 1 | 248,252 |
| nsv1196731 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 165,980,812 | 166,403,369 |
| nsv1196731 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 167,463,506 | 167,886,063 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7468104 | copy number loss | 41676 | Oligo aCGH | Probe signal intensity | nssv7461369, nssv7471292, nssv7473583 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7468104 | Remapped | Pass | NT_187536.1:g.(?_1 )_(248252_?)del | GRCh38.p12 | Second Pass | NT_187536.1 | Chr3|NT_18 7536.1 | 1 | 248,252 |
| nssv7468104 | Remapped | Perfect | NC_000003.12:g.(?_ 166263024)_(166685 581_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 166,263,024 | 166,685,581 |
| nssv7468104 | Remapped | Perfect | NC_000003.11:g.(?_ 165980812)_(166403 369_?)del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 165,980,812 | 166,403,369 |
| nssv7468104 | Submitted genomic | NC_000003.10:g.(?_ 167463506)_(167886 063_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 167,463,506 | 167,886,063 |