nsv3418562
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- 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 30 studies. See in: genome view
Overlapping variant regions from other studies: 199 SVs from 30 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3418562 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 89,096,018 | 89,096,018 | ||
nsv3418562 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 90,108,247 | 90,108,247 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14778835 | alu insertion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14778835 | Submitted genomic | NC_000008.11:g.890 96018_89096019ins1 41 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 89,096,018 | 89,096,018 | ||
nssv14778835 | Remapped | Perfect | NC_000008.10:g.901 08247_90108248ins1 41NC_000008.10:g.9 0108247_90108248in s141 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 90,108,247 | 90,108,247 |