nsv4767555
- Organism: Homo sapiens
- Study:nstd199 (Quan et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:14,628
- Publication(s):Quan 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: 314 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 315 SVs from 50 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4767555 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 40,023,712 | 40,038,339 |
nsv4767555 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 41,395,639 | 41,410,266 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16277737 | inversion | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16277737 | Remapped | Perfect | NC_000021.9:g.4002 3712_40038339inv | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 40,023,712 | 40,038,339 |
nssv16277737 | Submitted genomic | NC_000021.8:g.4139 5639_41410266inv | GRCh37 (hg19) | NC_000021.8 | Chr21 | 41,395,639 | 41,410,266 |