nsv5975492
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:282,177
- Description:DESC=[BREAKPOINT1]
- Publication(s):Almarri et al. 2020
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: 1246 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1274 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 286 SVs from 33 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5975492 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 135,645,374 | 135,927,550 | ||
nsv5975492 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 134,779,299 | 135,009,709 |
nsv5975492 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070887.1 | ChrX|NW_00 4070887.1 | 576,517 | 858,693 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17447957 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17447957 | Submitted genomic | NC_000023.11:g.135 645374_135927550in v | GRCh38 (hg38) | NC_000023.11 | ChrX | 135,645,374 | 135,927,550 | ||
nssv17447957 | Remapped | Perfect | NW_004070887.1:g.5 76517_858693inv | GRCh37.p13 | First Pass | NW_004070887.1 | ChrX|NW_00 4070887.1 | 576,517 | 858,693 |
nssv17447957 | Remapped | Pass | NC_000023.10:g.134 779299_135009709in v | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 134,779,299 | 135,009,709 |