nsv3418717
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element 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: 411 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 411 SVs from 25 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3418717 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 85,135,736 | 85,135,736 | ||
nsv3418717 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 84,390,742 | 84,390,742 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14803660 | alu insertion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
nssv14803686 | alu insertion | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14803660 | Submitted genomic | NC_000023.11:g.851 35736_85135737ins3 41 | GRCh38 (hg38) | NC_000023.11 | ChrX | 85,135,736 | 85,135,736 | ||
nssv14803686 | Submitted genomic | NC_000023.11:g.851 35736_85135737ins3 41 | GRCh38 (hg38) | NC_000023.11 | ChrX | 85,135,736 | 85,135,736 | ||
nssv14803660 | Remapped | Perfect | NC_000023.10:g.843 90742_84390743ins3 41NC_000023.10:g.8 4390742_84390743in s341 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 84,390,742 | 84,390,742 |
nssv14803686 | Remapped | Perfect | NC_000023.10:g.843 90742_84390743ins3 41NC_000023.10:g.8 4390742_84390743in s341 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 84,390,742 | 84,390,742 |