nsv4730960
- 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:690
- 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: 143 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 143 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4730960 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 100,873,198 | 100,873,887 |
| nsv4730960 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 101,339,535 | 101,340,224 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16258927 | duplication | Sequencing | Split read mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16258927 | Remapped | Perfect | NC_000014.9:g.1008 73198_100873887dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 100,873,198 | 100,873,887 |
| nssv16258927 | Submitted genomic | NC_000014.8:g.1013 39535_101340224dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 101,339,535 | 101,340,224 |