nsv819198
- Organism: Homo sapiens
- Study:nstd43 (Kim et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17,826
- Publication(s):Kim et al. 2009
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: 1566 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1685 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1359 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 1120 SVs from 31 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv819198 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 143,642,859 | 143,660,684 |
| nsv819198 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 149,137,513 | 149,155,348 |
| nsv819198 | Remapped | Good | GRCh37.p13 | PATCHES | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 458,272 | 476,097 |
| nsv819198 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 147,404,137 | 147,421,972 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1418670 | copy number gain | SAMN00002681 | Oligo aCGH | Probe signal intensity | 1,333 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1418670 | Remapped | Good | NC_000001.11:g.(?_ 143642859)_(143660 684_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 143,642,859 | 143,660,684 |
| nssv1418670 | Remapped | Good | NW_003871055.3:g.( ?_458272)_(476097_ ?)dup | GRCh37.p13 | Second Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 458,272 | 476,097 |
| nssv1418670 | Remapped | Perfect | NC_000001.10:g.(?_ 149137513)_(149155 348_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 149,137,513 | 149,155,348 |
| nssv1418670 | Submitted genomic | NC_000001.9:g.(?_1 47404137)_(1474219 72_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 147,404,137 | 147,421,972 |