nsv1190969
- 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:1,825,140
- 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: 22860 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 11401 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 20623 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 8930 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 10785 SVs from 39 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1190969 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 105,003,888 | 106,829,027 |
| nsv1190969 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 1 | 1,214,078 |
| nsv1190969 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 105,470,225 | 107,237,255 |
| nsv1190969 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 449,535 | 1,492,194 |
| nsv1190969 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 104,541,270 | 106,308,300 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv7464549 | copy number loss | 25713 | Oligo aCGH | Probe signal intensity | nssv7460125, nssv7467260, nssv7470800 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv7464549 | Remapped | Pass | NT_187600.1:g.(?_1 )_(1214078_?)del | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 1 | 1,214,078 |
| nssv7464549 | Remapped | Good | NC_000014.9:g.(?_1 05003888)_(1068290 27_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 105,003,888 | 106,829,027 |
| nssv7464549 | Remapped | Pass | NW_004166863.1:g.( ?_449535)_(1492194 _?)del | GRCh37.p13 | Second Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 449,535 | 1,492,194 |
| nssv7464549 | Remapped | Perfect | NC_000014.8:g.(?_1 05470225)_(1072372 55_?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 105,470,225 | 107,237,255 |
| nssv7464549 | Submitted genomic | NC_000014.7:g.(?_1 04541270)_(1063083 00_?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 104,541,270 | 106,308,300 |