nsv4360651
- 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:22,614
- 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: 531 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 531 SVs from 68 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4360651 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 240,676,144 | 240,682,451 | 240,692,301 | 240,698,757 |
| nsv4360651 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000002.11 | Chr2 | 241,615,561 | 241,621,868 | 241,631,718 | 241,638,174 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15607173 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15607173 | Remapped | Perfect | NC_000002.12:g.(24 0676144_240682451) _(240692301_240698 757)inv | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 240,676,144 | 240,682,451 | 240,692,301 | 240,698,757 |
| nssv15607173 | Submitted genomic | NC_000002.11:g.(24 1615561_241621868) _(241631718_241638 174)inv | GRCh37.p13 | NC_000002.11 | Chr2 | 241,615,561 | 241,621,868 | 241,631,718 | 241,638,174 |