nsv5958966
- 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:123
- 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: 370 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 357 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 38 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5958966 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 44,627,404 | 44,627,526 | ||
nsv5958966 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000021.8 | Chr21 | 46,047,321 | 46,047,443 |
nsv5958966 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775435.1 | Chr21|NW_0 04775435.1 | 130,727 | 130,849 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17409586 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17409586 | Submitted genomic | NC_000021.9:g.4462 7404_44627526del | GRCh38 (hg38) | NC_000021.9 | Chr21 | 44,627,404 | 44,627,526 | ||
nssv17409586 | Remapped | Perfect | NW_004775435.1:g.1 30727_130849del | GRCh37.p13 | First Pass | NW_004775435.1 | Chr21|NW_0 04775435.1 | 130,727 | 130,849 |
nssv17409586 | Remapped | Perfect | NC_000021.8:g.4604 7321_46047443del | GRCh37.p13 | Second Pass | NC_000021.8 | Chr21 | 46,047,321 | 46,047,443 |