nsv3947355
- Organism: Homo sapiens
- Study:nstd167 (Wenger et al. 2019)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Wenger 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: 22 SVs from 7 studies. See in: genome view
Overlapping variant regions from other studies: 22 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3947355 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 47,759,923 | 47,759,923 |
| nsv3947355 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 48,153,706 | 48,153,706 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv15192448 | insertion | SAMN03283347 | Sequencing | de novo and local sequence assembly | Heterozygous | 30,634 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15192448 | Remapped | Perfect | NC_000012.12:g.477 59923_47759924ins9 7 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 47,759,923 | 47,759,923 |
| nssv15192448 | Submitted genomic | NC_000012.11:g.481 53706_48153707ins9 7 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 48,153,706 | 48,153,706 |