nsv3418744
- 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: 235 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 235 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3418744 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 155,341,556 | 155,341,556 | ||
| nsv3418744 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 155,133,796 | 155,133,796 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14767083 | insertion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14769607 | insertion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14767083 | Submitted genomic | NC_000007.14:g.155 341556_155341557in s78 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 155,341,556 | 155,341,556 | ||
| nssv14769607 | Submitted genomic | NC_000007.14:g.155 341556_155341557in s78 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 155,341,556 | 155,341,556 | ||
| nssv14767083 | Remapped | Perfect | NC_000007.13:g.155 133796_155133797in s78NC_000007.13:g. 155133796_15513379 7ins78 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 155,133,796 | 155,133,796 |
| nssv14769607 | Remapped | Perfect | NC_000007.13:g.155 133796_155133797in s78NC_000007.13:g. 155133796_15513379 7ins78 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 155,133,796 | 155,133,796 |