nsv5718580
- 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 SVA 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: 258 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 258 SVs from 26 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5718580 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 6,220,809 | 6,220,809 | ||
nsv5718580 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 6,280,869 | 6,280,869 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17248934 | sva insertion | Sequencing | Other |
nssv17251209 | sva insertion | Sequencing | Other |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17248934 | Submitted genomic | NC_000001.11:g.622 0809_6220810ins761 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 6,220,809 | 6,220,809 | ||
nssv17251209 | Submitted genomic | NC_000001.11:g.622 0809_6220810ins728 | GRCh38 (hg38) | NC_000001.11 | Chr1 | 6,220,809 | 6,220,809 | ||
nssv17248934 | Remapped | Perfect | NC_000001.10:g.628 0869_6280870ins761 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 6,280,869 | 6,280,869 |
nssv17251209 | Remapped | Perfect | NC_000001.10:g.628 0869_6280870ins728 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 6,280,869 | 6,280,869 |