nsv3389355
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Audano 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: 199 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 199 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3389355 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 177,096,888 | 177,096,888 | ||
| nsv3389355 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 176,523,889 | 176,523,889 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14719829 | insertion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14723744 | insertion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14719829 | Submitted genomic | NC_000005.10:g.177 096888_177096889in s54 | GRCh38 (hg38) | NC_000005.10 | Chr5 | 177,096,888 | 177,096,888 | ||
| nssv14723744 | Submitted genomic | NC_000005.10:g.177 096888_177096889in s54 | GRCh38 (hg38) | NC_000005.10 | Chr5 | 177,096,888 | 177,096,888 | ||
| nssv14719829 | Remapped | Perfect | NC_000005.9:g.1765 23889_176523890ins 54NC_000005.9:g.17 6523889_176523890i ns54 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 176,523,889 | 176,523,889 |
| nssv14723744 | Remapped | Perfect | NC_000005.9:g.1765 23889_176523890ins 54NC_000005.9:g.17 6523889_176523890i ns54 | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 176,523,889 | 176,523,889 |