nsv4768293
- Organism: Homo sapiens
- Study:nstd199 (Quan et al. 2021)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 109 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4768293 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 19,148,947 | 19,148,947 |
| nsv4768293 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 19,348,708 | 19,348,708 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16277343 | insertion | Sequencing | Split read mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16277343 | Remapped | Perfect | NC_000002.12:g.191 48947_19148948ins6 4 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 19,148,947 | 19,148,947 |
| nssv16277343 | Submitted genomic | NC_000002.11:g.193 48708_19348709ins6 4 | GRCh37 (hg19) | NC_000002.11 | Chr2 | 19,348,708 | 19,348,708 |