nsv4377888
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:23,927
- Publication(s):Zarrei et al. 2019
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: 538 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 333 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 540 SVs from 86 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4377888 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 108,170,935 | 108,194,861 |
| nsv4377888 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_017852928.1 | Chr1|NW_01 7852928.1 | 183,111 | 207,031 |
| nsv4377888 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 108,713,557 | 108,737,483 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15628536 | copy number loss | 1-0553-001 | SNP array | Genotyping | 29 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15628536 | Remapped | Good | NW_017852928.1:g.( ?_183111)_(207031_ ?)del | GRCh38.p12 | Second Pass | NW_017852928.1 | Chr1|NW_01 7852928.1 | 183,111 | 207,031 |
| nssv15628536 | Remapped | Perfect | NC_000001.11:g.(?_ 108170935)_(108194 861_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 108,170,935 | 108,194,861 |
| nssv15628536 | Submitted genomic | NC_000001.10:g.(?_ 108713557)_(108737 483_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 108,713,557 | 108,737,483 |