nsv5669729
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:inversion
- Method Type:Optical mapping, Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:36,181
- 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: 172 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 172 SVs from 40 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5669729 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 40,333,147 | 40,369,327 | ||
nsv5669729 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 40,625,348 | 40,661,528 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv17092095 | inversion | SAMN00001695 | Optical mapping, Sequencing | Optical mapping, Sequence alignment | 6,153 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17092095 | Submitted genomic | NC_000015.10:g.403 33147_40369327inv | GRCh38 (hg38) | NC_000015.10 | Chr15 | 40,333,147 | 40,369,327 | ||
nssv17092095 | Remapped | Perfect | NC_000015.9:g.4062 5348_40661528inv | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 40,625,348 | 40,661,528 |