nsv1120083
- Organism: Homo sapiens
- Study:nstd106 (Alsmadi et al. 2014)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:31,899
- Publication(s):Alsmadi et al. 2014
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: 302 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 301 SVs from 60 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1120083 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 49,070,262 | 49,102,160 |
| nsv1120083 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 50,278,307 | 50,310,205 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3960827 | inversion | KWS1 | Sequencing | Read depth and paired-end mapping | 22,470 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3960827 | Remapped | Perfect | NC_000010.11:g.(49 070262_?)_(?_49102 160)inv | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 49,070,262 | 49,102,160 |
| nssv3960827 | Submitted genomic | NC_000010.10:g.(50 278307_?)_(?_50310 205)inv | GRCh37 (hg19) | NC_000010.10 | Chr10 | 50,278,307 | 50,310,205 |