nsv5672510
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Ebert 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: 353 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 353 SVs from 38 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5672510 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 43,743,424 | 43,743,424 | ||
nsv5672510 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 45,163,305 | 45,163,305 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17118693 | Submitted genomic | NC_000021.9:g.4374 3424_43743425ins20 5 | GRCh38 (hg38) | NC_000021.9 | Chr21 | 43,743,424 | 43,743,424 | ||
nssv17118693 | Remapped | Perfect | NC_000021.8:g.4516 3305_45163306ins20 5 | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 45,163,305 | 45,163,305 |