nsv5669243
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:53
- 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: 446 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 441 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 30 SVs from 10 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5669243 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 148,897,230 | 148,897,282 | ||
nsv5669243 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 147,978,760 | 147,978,812 |
nsv5669243 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 4,421,627 | 4,421,679 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17166495 | Submitted genomic | NC_000023.11:g.148 897230_148897282de lT | GRCh38 (hg38) | NC_000023.11 | ChrX | 148,897,230 | 148,897,282 | ||
nssv17166495 | Remapped | Perfect | NW_004070890.2:g.4 421627_4421679delT | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 4,421,627 | 4,421,679 |
nssv17166495 | Remapped | Perfect | NC_000023.10:g.147 978760_147978812de lT | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 147,978,760 | 147,978,812 |