nsv5665112
- 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:1,703,325
- 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: 5394 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 5394 SVs from 119 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5665112 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 16,806,184 (-4899, +4899) | 18,509,508 (-4599, +4599) | ||
nsv5665112 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 16,709,498 (-4899, +4899) | 18,412,822 (-4599, +4599) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17083287 | inversion | Optical mapping, Sequencing | Optical mapping, Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17083287 | Submitted genomic | NC_000017.11:g.(16 801285_16811083)_( 18504909_18514107) inv | GRCh38 (hg38) | NC_000017.11 | Chr17 | 16,806,184 (-4899, +4899) | 18,509,508 (-4599, +4599) | ||
nssv17083287 | Remapped | Perfect | NC_000017.10:g.(16 704599_16714397)_( 18408223_18417421) inv | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 16,709,498 (-4899, +4899) | 18,412,822 (-4599, +4599) |