nsv499403
- 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:644
- 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: 450 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 44 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 450 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 209 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv499403 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 990,305 | 990,947 |
| nsv499403 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187568.1 | Chr8|NT_18 7568.1 | 134,187 | 134,830 |
| nsv499403 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 940,305 | 940,947 |
| nsv499403 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 930,305 | 930,947 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv585628 | copy number gain | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv585628 | Remapped | Good | NT_187568.1:g.1341 87_134830dup | GRCh38.p12 | Second Pass | NT_187568.1 | Chr8|NT_18 7568.1 | 134,187 | 134,830 |
| nssv585628 | Remapped | Perfect | NC_000008.11:g.990 305_990947dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 990,305 | 990,947 |
| nssv585628 | Remapped | Perfect | NC_000008.10:g.940 305_940947dup | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 940,305 | 940,947 |
| nssv585628 | Submitted genomic | NC_000008.9:g.9303 05_930947dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 930,305 | 930,947 |