nsv498751
- Organism: Homo sapiens
- Study:nstd47 (Kidd et al. 2010b)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:22,212
- Publication(s):Kidd et al. 2010
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: 371 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 246 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 247 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 371 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 151 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv498751 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 7,789,626 | 7,811,835 |
| nsv498751 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,703 |
| nsv498751 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,705 |
| nsv498751 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 7,811,173 | 7,833,382 |
| nsv498751 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 7,767,749 | 7,789,958 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv586439 | copy number loss | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv586439 | Remapped | Perfect | NT_187583.1:g.1049 4_32703del | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 10,494 | 32,703 |
| nssv586439 | Remapped | Good | NW_011332695.1:g.1 0494_32705del | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 10,494 | 32,705 |
| nssv586439 | Remapped | Perfect | NC_000011.10:g.778 9626_7811835del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 7,789,626 | 7,811,835 |
| nssv586439 | Remapped | Perfect | NC_000011.9:g.7811 173_7833382del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 7,811,173 | 7,833,382 |
| nssv586439 | Submitted genomic | NC_000011.8:g.7767 749_7789958del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 7,767,749 | 7,789,958 |