nsv819842
- 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:50,229
- 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: 811 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 465 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 809 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 243 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv819842 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 49,688,090 | 49,738,318 |
| nsv819842 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 152,271 | 202,467 |
| nsv819842 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 49,709,642 | 49,759,870 |
| nsv819842 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 49,666,218 | 49,716,446 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1418747 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1418747 | Remapped | Good | NW_019805495.1:g.( ?_152271)_(202467_ ?)dup | GRCh38.p12 | Second Pass | NW_019805495.1 | Chr11|NW_0 19805495.1 | 152,271 | 202,467 |
| nssv1418747 | Remapped | Perfect | NC_000011.10:g.(?_ 49688090)_(4973831 8_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 49,688,090 | 49,738,318 |
| nssv1418747 | Remapped | Perfect | NC_000011.9:g.(?_4 9709642)_(49759870 _?)dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 49,709,642 | 49,759,870 |
| nssv1418747 | Submitted genomic | NC_000011.8:g.(?_4 9666218)_(49716446 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 49,666,218 | 49,716,446 |