nsv4749247
- Organism: Homo sapiens
- Study:nstd199 (Quan et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,494,028
- Publication(s):Quan et al. 2021
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: 17293 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 6124 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 6418 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 17283 SVs from 142 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4749247 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 28,914,297 | 34,408,324 |
| nsv4749247 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 1,192,197 | 5,161,414 |
| nsv4749247 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1,079,713 | 4,998,962 |
| nsv4749247 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 29,159,443 | 34,700,525 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16279964 | deletion | Sequencing | Split read mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16279964 | Remapped | Pass | NT_187660.1:g.1192 197_5161414del | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 1,192,197 | 5,161,414 |
| nssv16279964 | Remapped | Pass | NW_011332701.1:g.1 079713_4998962del | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 1,079,713 | 4,998,962 |
| nssv16279964 | Remapped | Good | NC_000015.10:g.289 14297_34408324del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 28,914,297 | 34,408,324 |
| nssv16279964 | Submitted genomic | NC_000015.9:g.2915 9443_34700525del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 29,159,443 | 34,700,525 |