nsv1191380
- 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:214,483
- 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: 791 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 791 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 237 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1191380 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 163,325,977 | 163,540,459 |
| nsv1191380 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 162,752,983 | 162,967,465 |
| nsv1191380 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 162,685,561 | 162,900,043 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7468754 | copy number loss | 22853 | Oligo aCGH | Probe signal intensity | nssv7459824, nssv7464546 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7468754 | Remapped | Perfect | NC_000005.10:g.(?_ 163325977)_(163540 459_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 163,325,977 | 163,540,459 |
| nssv7468754 | Remapped | Perfect | NC_000005.9:g.(?_1 62752983)_(1629674 65_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 162,752,983 | 162,967,465 |
| nssv7468754 | Submitted genomic | NC_000005.8:g.(?_1 62685561)_(1629000 43_?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 162,685,561 | 162,900,043 |