nsv5874319
- Organism: Homo sapiens
- Study:nstd209 (Almarri et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:313
- 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: 515 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 512 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 58 SVs from 16 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5874319 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 154,400,937 | 154,401,249 | ||
nsv5874319 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 153,629,278 | 153,629,590 |
nsv5874319 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 1,834,916 | 1,835,228 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17448079 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17448079 | Submitted genomic | NC_000023.11:g.154 400937_154401249de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 154,400,937 | 154,401,249 | ||
nssv17448079 | Remapped | Perfect | NW_003871103.3:g.1 834916_1835228del | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 1,834,916 | 1,835,228 |
nssv17448079 | Remapped | Perfect | NC_000023.10:g.153 629278_153629590de l | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 153,629,278 | 153,629,590 |