nsv5648242
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Ebert et al. 2021
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: 131 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 131 SVs from 20 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5648242 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 76,731,539 | 76,731,539 | ||
nsv5648242 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 74,727,621 | 74,727,621 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17087216 | insertion | SAMN00004622 | Sequencing | Sequence alignment | 1,208 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17087216 | Submitted genomic | NC_000017.11:g.767 31539_76731540ins6 91 | GRCh38 (hg38) | NC_000017.11 | Chr17 | 76,731,539 | 76,731,539 | ||
nssv17087216 | Remapped | Perfect | NC_000017.10:g.747 27621_74727622ins6 91 | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 74,727,621 | 74,727,621 |