nsv4377959
- 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:41,432
- 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: 365 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 144 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 365 SVs from 53 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4377959 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 1,835,640 | 1,877,071 |
| nsv4377959 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654718.1 | Chr12|NW_0 18654718.1 | 177,784 | 219,215 |
| nsv4377959 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 1,944,806 | 1,986,237 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15631251 | copy number loss | 1-0616-004 | SNP array | Genotyping | 18 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15631251 | Remapped | Perfect | NW_018654718.1:g.( ?_177784)_(219215_ ?)del | GRCh38.p12 | Second Pass | NW_018654718.1 | Chr12|NW_0 18654718.1 | 177,784 | 219,215 |
| nssv15631251 | Remapped | Perfect | NC_000012.12:g.(?_ 1835640)_(1877071_ ?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 1,835,640 | 1,877,071 |
| nssv15631251 | Submitted genomic | NC_000012.11:g.(?_ 1944806)_(1986237_ ?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 1,944,806 | 1,986,237 |