nsv4378281
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:21,082
- 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: 693 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 693 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4378281 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 68,674,167 | 68,695,248 |
| nsv4378281 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 69,248,299 | 69,269,380 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15621941 | copy number loss | 1-0974-003 | SNP array | Genotyping | 19 |
| nssv15627795 | copy number loss | 1-0543-002 | SNP array | Genotyping | 26 |
| nssv15628451 | copy number loss | 1-0530-003 | SNP array | Genotyping | 22 |
| nssv15628873 | copy number loss | 1-0559-003 | SNP array | Genotyping | 28 |
| nssv15634858 | copy number loss | 12-8214-003 | SNP array | Genotyping | 24 |
| nssv15638382 | copy number loss | 14-0135-001 | SNP array | Genotyping | 19 |
| nssv15639131 | copy number loss | 14-0250-003 | SNP array | Genotyping | 19 |
| nssv15639487 | copy number loss | 14-0231-001 | SNP array | Genotyping | 25 |
| nssv15639564 | copy number loss | 14-0238-003 | SNP array | Genotyping | 17 |
| nssv15640455 | copy number loss | 14-0286-004 | SNP array | Genotyping | 10 |
| nssv15642346 | copy number loss | 15-1117-001 | SNP array | Genotyping | 20 |
| nssv15644272 | copy number loss | 16-1005-001 | SNP array | Genotyping | 18 |
| nssv15661655 | copy number loss | 4-0032-001 | SNP array | Genotyping | 39 |
| nssv15678105 | copy number loss | 245252S | SNP array | Genotyping | 27 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15621941 | Remapped | Perfect | NC_000013.11:g.(?_ 68674167)_(6869524 8_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,674,167 | 68,695,248 |
| nssv15627795 | Remapped | Perfect | NC_000013.11:g.(?_ 68674167)_(6869524 8_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,674,167 | 68,695,248 |
| nssv15628451 | Remapped | Perfect | NC_000013.11:g.(?_ 68674167)_(6869524 8_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,674,167 | 68,695,248 |
| nssv15628873 | Remapped | Perfect | NC_000013.11:g.(?_ 68674167)_(6869524 8_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,674,167 | 68,695,248 |
| nssv15634858 | Remapped | Perfect | NC_000013.11:g.(?_ 68674167)_(6869524 8_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,674,167 | 68,695,248 |
| nssv15638382 | Remapped | Perfect | NC_000013.11:g.(?_ 68674167)_(6869524 8_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,674,167 | 68,695,248 |
| nssv15639131 | Remapped | Perfect | NC_000013.11:g.(?_ 68674167)_(6869524 8_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,674,167 | 68,695,248 |
| nssv15639487 | Remapped | Perfect | NC_000013.11:g.(?_ 68674167)_(6869524 8_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,674,167 | 68,695,248 |
| nssv15639564 | Remapped | Perfect | NC_000013.11:g.(?_ 68674167)_(6869524 8_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,674,167 | 68,695,248 |
| nssv15640455 | Remapped | Perfect | NC_000013.11:g.(?_ 68674167)_(6869524 8_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,674,167 | 68,695,248 |
| nssv15642346 | Remapped | Perfect | NC_000013.11:g.(?_ 68674167)_(6869524 8_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,674,167 | 68,695,248 |
| nssv15644272 | Remapped | Perfect | NC_000013.11:g.(?_ 68674167)_(6869524 8_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,674,167 | 68,695,248 |
| nssv15661655 | Remapped | Perfect | NC_000013.11:g.(?_ 68674167)_(6869524 8_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,674,167 | 68,695,248 |
| nssv15678105 | Remapped | Perfect | NC_000013.11:g.(?_ 68674167)_(6869524 8_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 68,674,167 | 68,695,248 |
| nssv15621941 | Submitted genomic | NC_000013.10:g.(?_ 69248299)_(6926938 0_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,248,299 | 69,269,380 | ||
| nssv15627795 | Submitted genomic | NC_000013.10:g.(?_ 69248299)_(6926938 0_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,248,299 | 69,269,380 | ||
| nssv15628451 | Submitted genomic | NC_000013.10:g.(?_ 69248299)_(6926938 0_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,248,299 | 69,269,380 | ||
| nssv15628873 | Submitted genomic | NC_000013.10:g.(?_ 69248299)_(6926938 0_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,248,299 | 69,269,380 | ||
| nssv15634858 | Submitted genomic | NC_000013.10:g.(?_ 69248299)_(6926938 0_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,248,299 | 69,269,380 | ||
| nssv15638382 | Submitted genomic | NC_000013.10:g.(?_ 69248299)_(6926938 0_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,248,299 | 69,269,380 | ||
| nssv15639131 | Submitted genomic | NC_000013.10:g.(?_ 69248299)_(6926938 0_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,248,299 | 69,269,380 | ||
| nssv15639487 | Submitted genomic | NC_000013.10:g.(?_ 69248299)_(6926938 0_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,248,299 | 69,269,380 | ||
| nssv15639564 | Submitted genomic | NC_000013.10:g.(?_ 69248299)_(6926938 0_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,248,299 | 69,269,380 | ||
| nssv15640455 | Submitted genomic | NC_000013.10:g.(?_ 69248299)_(6926938 0_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,248,299 | 69,269,380 | ||
| nssv15642346 | Submitted genomic | NC_000013.10:g.(?_ 69248299)_(6926938 0_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,248,299 | 69,269,380 | ||
| nssv15644272 | Submitted genomic | NC_000013.10:g.(?_ 69248299)_(6926938 0_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,248,299 | 69,269,380 | ||
| nssv15661655 | Submitted genomic | NC_000013.10:g.(?_ 69248299)_(6926938 0_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,248,299 | 69,269,380 | ||
| nssv15678105 | Submitted genomic | NC_000013.10:g.(?_ 69248299)_(6926938 0_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 69,248,299 | 69,269,380 |