nsv4360646
- Organism: Homo sapiens
- Study:nstd169 (Giner-Delgado et al. 2019)
- Variant Type:inversion
- Method Type:MLPA
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,739
- Publication(s):Giner-Delgado et al. 2019
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: 263 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 263 SVs from 57 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4360646 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 148,173,477 | 148,174,676 | 148,175,053 | 148,175,215 |
| nsv4360646 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000005.9 | Chr5 | 147,553,040 | 147,554,239 | 147,554,616 | 147,554,778 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15607184 | inversion | MLPA | Genotyping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15607184 | Remapped | Perfect | NC_000005.10:g.(14 8173477_148174676) _(148175053_148175 215)inv | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 148,173,477 | 148,174,676 | 148,175,053 | 148,175,215 |
| nssv15607184 | Submitted genomic | NC_000005.9:g.(147 553040_147554239)_ (147554616_1475547 78)inv | GRCh37.p13 | NC_000005.9 | Chr5 | 147,553,040 | 147,554,239 | 147,554,616 | 147,554,778 |