nsv5721431
- Organism: Homo sapiens
- Study:nstd211 (Chuang et al. 2021)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- 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: 220 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 220 SVs from 23 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5721431 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 103,402,571 | 103,402,571 | ||
nsv5721431 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 104,414,799 | 104,414,799 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17248412 | line1 insertion | Sequencing | Other |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17248412 | Submitted genomic | NC_000008.11:g.103 402571_103402572in s83 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 103,402,571 | 103,402,571 | ||
nssv17248412 | Remapped | Perfect | NC_000008.10:g.104 414799_104414800in s83 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 104,414,799 | 104,414,799 |