nsv4377115
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:31,723
- 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: 964 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 965 SVs from 85 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4377115 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 11,067,384 | 11,099,106 |
| nsv4377115 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 11,219,983 | 11,251,705 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15629342 | copy number loss | 1-0541-004 | SNP array | Genotyping | 15 |
| nssv15632168 | copy number loss | 10-0013-004 | SNP array | Genotyping | 24 |
| nssv15632958 | copy number loss | 10-1076-005 | SNP array | Genotyping | 21 |
| nssv15654775 | copy number loss | 3-0269-001 | SNP array | Genotyping | 17 |
| nssv15659337 | copy number loss | 3-0650-000 | SNP array | Genotyping | 15 |
| nssv15672707 | copy number loss | 7-0336-001 | SNP array | Genotyping | 22 |
| nssv15684695 | copy number loss | OCD153-WD-140-1366 | SNP array | Genotyping | 19 |
| nssv15694801 | copy number loss | 199160 | SNP array | Genotyping | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15629342 | Remapped | Perfect | NC_000012.12:g.(?_ 11067384)_(1109910 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,067,384 | 11,099,106 |
| nssv15632168 | Remapped | Perfect | NC_000012.12:g.(?_ 11067384)_(1109910 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,067,384 | 11,099,106 |
| nssv15632958 | Remapped | Perfect | NC_000012.12:g.(?_ 11067384)_(1109910 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,067,384 | 11,099,106 |
| nssv15654775 | Remapped | Perfect | NC_000012.12:g.(?_ 11067384)_(1109910 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,067,384 | 11,099,106 |
| nssv15659337 | Remapped | Perfect | NC_000012.12:g.(?_ 11067384)_(1109910 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,067,384 | 11,099,106 |
| nssv15672707 | Remapped | Perfect | NC_000012.12:g.(?_ 11067384)_(1109910 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,067,384 | 11,099,106 |
| nssv15684695 | Remapped | Perfect | NC_000012.12:g.(?_ 11067384)_(1109910 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,067,384 | 11,099,106 |
| nssv15694801 | Remapped | Perfect | NC_000012.12:g.(?_ 11067384)_(1109910 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,067,384 | 11,099,106 |
| nssv15629342 | Submitted genomic | NC_000012.11:g.(?_ 11219983)_(1125170 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,219,983 | 11,251,705 | ||
| nssv15632168 | Submitted genomic | NC_000012.11:g.(?_ 11219983)_(1125170 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,219,983 | 11,251,705 | ||
| nssv15632958 | Submitted genomic | NC_000012.11:g.(?_ 11219983)_(1125170 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,219,983 | 11,251,705 | ||
| nssv15654775 | Submitted genomic | NC_000012.11:g.(?_ 11219983)_(1125170 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,219,983 | 11,251,705 | ||
| nssv15659337 | Submitted genomic | NC_000012.11:g.(?_ 11219983)_(1125170 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,219,983 | 11,251,705 | ||
| nssv15672707 | Submitted genomic | NC_000012.11:g.(?_ 11219983)_(1125170 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,219,983 | 11,251,705 | ||
| nssv15684695 | Submitted genomic | NC_000012.11:g.(?_ 11219983)_(1125170 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,219,983 | 11,251,705 | ||
| nssv15694801 | Submitted genomic | NC_000012.11:g.(?_ 11219983)_(1125170 5_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,219,983 | 11,251,705 |