nsv4382013
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:57,827
- 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4382013 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 11,350,291 | 11,408,117 |
| nsv4382013 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 11,503,225 | 11,561,051 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15633513 | copy number loss | 11-0025-003 | SNP array | Genotyping | 26 |
| nssv15641385 | copy number loss | 14-0349-001 | SNP array | Genotyping | 23 |
| nssv15642077 | copy number loss | 15-1128-003 | SNP array | Genotyping | 20 |
| nssv15643393 | copy number loss | 16-1003-004 | SNP array | Genotyping | 20 |
| nssv15644180 | copy number loss | 16-1003-001 | SNP array | Genotyping | 22 |
| nssv15647044 | copy number loss | 2-1218-003 | SNP array | Genotyping | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15633513 | Remapped | Perfect | NC_000012.12:g.(?_ 11350291)_(1140811 7_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,350,291 | 11,408,117 |
| nssv15641385 | Remapped | Perfect | NC_000012.12:g.(?_ 11350291)_(1140811 7_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,350,291 | 11,408,117 |
| nssv15642077 | Remapped | Perfect | NC_000012.12:g.(?_ 11350291)_(1140811 7_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,350,291 | 11,408,117 |
| nssv15643393 | Remapped | Perfect | NC_000012.12:g.(?_ 11350291)_(1140811 7_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,350,291 | 11,408,117 |
| nssv15644180 | Remapped | Perfect | NC_000012.12:g.(?_ 11350291)_(1140811 7_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,350,291 | 11,408,117 |
| nssv15647044 | Remapped | Perfect | NC_000012.12:g.(?_ 11350291)_(1140811 7_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,350,291 | 11,408,117 |
| nssv15633513 | Submitted genomic | NC_000012.11:g.(?_ 11503225)_(1156105 1_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,503,225 | 11,561,051 | ||
| nssv15641385 | Submitted genomic | NC_000012.11:g.(?_ 11503225)_(1156105 1_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,503,225 | 11,561,051 | ||
| nssv15642077 | Submitted genomic | NC_000012.11:g.(?_ 11503225)_(1156105 1_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,503,225 | 11,561,051 | ||
| nssv15643393 | Submitted genomic | NC_000012.11:g.(?_ 11503225)_(1156105 1_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,503,225 | 11,561,051 | ||
| nssv15644180 | Submitted genomic | NC_000012.11:g.(?_ 11503225)_(1156105 1_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,503,225 | 11,561,051 | ||
| nssv15647044 | Submitted genomic | NC_000012.11:g.(?_ 11503225)_(1156105 1_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,503,225 | 11,561,051 |