nsv4379808
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:57,833
- 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: 900 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 901 SVs from 96 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4379808 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 11,350,153 | 11,407,985 |
| nsv4379808 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 11,503,087 | 11,560,919 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15629204 | copy number loss | 1-0566-002 | SNP array | Genotyping | 24 |
| nssv15664668 | copy number loss | 4-0078-003 | SNP array | Genotyping | 17 |
| nssv15668520 | copy number loss | 7-0225-003 | SNP array | Genotyping | 17 |
| nssv15693018 | copy number loss | OCD8-S_896143 | SNP array | Genotyping | 27 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15629204 | Remapped | Perfect | NC_000012.12:g.(?_ 11350153)_(1140798 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,350,153 | 11,407,985 |
| nssv15664668 | Remapped | Perfect | NC_000012.12:g.(?_ 11350153)_(1140798 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,350,153 | 11,407,985 |
| nssv15668520 | Remapped | Perfect | NC_000012.12:g.(?_ 11350153)_(1140798 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,350,153 | 11,407,985 |
| nssv15693018 | Remapped | Perfect | NC_000012.12:g.(?_ 11350153)_(1140798 5_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,350,153 | 11,407,985 |
| nssv15629204 | Submitted genomic | NC_000012.11:g.(?_ 11503087)_(1156091 9_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,503,087 | 11,560,919 | ||
| nssv15664668 | Submitted genomic | NC_000012.11:g.(?_ 11503087)_(1156091 9_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,503,087 | 11,560,919 | ||
| nssv15668520 | Submitted genomic | NC_000012.11:g.(?_ 11503087)_(1156091 9_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,503,087 | 11,560,919 | ||
| nssv15693018 | Submitted genomic | NC_000012.11:g.(?_ 11503087)_(1156091 9_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,503,087 | 11,560,919 |