nsv4657995
- Organism: Homo sapiens
- Study:nstd185 (Puig et al. 2020)
- Variant Type:inversion
- Method Type:ddPCR
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:741,738
- Publication(s):Puig et al. 2020
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: 3509 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 3509 SVs from 103 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4657995 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000007.14 | Chr7 | 5,992,806 | 6,734,543 | ||
| nsv4657995 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 6,032,437 | 6,774,174 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16181386 | inversion | ddPCR | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16181386 | Submitted genomic | NC_000007.14:g.(?_ 5992806)_(6734543_ ?)inv | GRCh38.p13 | NC_000007.14 | Chr7 | 5,992,806 | 6,734,543 | ||
| nssv16181386 | Remapped | Perfect | NC_000007.13:g.(?_ 6032437)_(6774174_ ?)inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 6,032,437 | 6,774,174 |