nsv5874684
- 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:3,303
- 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: 402 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 402 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 11 SVs from 5 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5874684 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 77,590,236 | 77,593,538 | ||
nsv5874684 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 76,845,706 | 76,849,008 |
nsv5874684 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871101.3 | ChrX|NW_00 3871101.3 | 147,498 | 150,800 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17467975 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17467975 | Submitted genomic | NC_000023.11:g.775 90236_77593538del | GRCh38 (hg38) | NC_000023.11 | ChrX | 77,590,236 | 77,593,538 | ||
nssv17467975 | Remapped | Perfect | NW_003871101.3:g.1 47498_150800del | GRCh37.p13 | First Pass | NW_003871101.3 | ChrX|NW_00 3871101.3 | 147,498 | 150,800 |
nssv17467975 | Remapped | Perfect | NC_000023.10:g.768 45706_76849008del | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 76,845,706 | 76,849,008 |