nsv6623426
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:624,345
- Publication(s):Zarrei et al. 2023
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: 1858 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 1170 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1858 SVs from 101 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6623426 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 21,800,178 | 22,424,522 |
| nsv6623426 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 680,517 | 1,304,603 |
| nsv6623426 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 21,811,499 | 22,435,843 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18311430 | deletion | OSC7534 | SNP array | Probe signal intensity | 8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18311430 | Remapped | Good | NW_017852933.1:g.( ?_680517)_(1304603 _?)del | GRCh38.p12 | Second Pass | NW_017852933.1 | Chr16|NW_0 17852933.1 | 680,517 | 1,304,603 |
| nssv18311430 | Remapped | Perfect | NC_000016.10:g.(?_ 21800178)_(2242452 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 21,800,178 | 22,424,522 |
| nssv18311430 | Submitted genomic | NC_000016.9:g.(?_2 1811499)_(22435843 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 21,811,499 | 22,435,843 |