nsv5731044
- Organism: Homo sapiens
- Study:nstd211 (Chuang et al. 2021)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:Insertion of a L1 mobile element relative to the reference
- Publication(s):Chuang 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: 132 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 132 SVs from 27 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5731044 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 95,020,109 | 95,020,109 | ||
nsv5731044 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 95,941,260 | 95,941,260 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17233459 | line1 insertion | Sequencing | Other |
nssv17251000 | line1 insertion | Sequencing | Other |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17233459 | Submitted genomic | NC_000004.12:g.950 20109_95020110ins6 019 | GRCh38 (hg38) | NC_000004.12 | Chr4 | 95,020,109 | 95,020,109 | ||
nssv17251000 | Submitted genomic | NC_000004.12:g.950 20109_95020110ins6 019 | GRCh38 (hg38) | NC_000004.12 | Chr4 | 95,020,109 | 95,020,109 | ||
nssv17233459 | Remapped | Perfect | NC_000004.11:g.959 41260_95941261ins6 019 | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 95,941,260 | 95,941,260 |
nssv17251000 | Remapped | Perfect | NC_000004.11:g.959 41260_95941261ins6 019 | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 95,941,260 | 95,941,260 |