nsv4378288
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:15
- Validation:Not tested
- Clinical Assertions: No
- Region Size:72,629
- 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: 2583 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 2583 SVs from 97 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4378288 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,259,375 | 78,332,003 |
| nsv4378288 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 78,969,092 | 79,041,720 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15611915 | copy number loss | 1-0112-003 | SNP array | Genotyping | 23 |
| nssv15615744 | copy number loss | 1-0780-003 | SNP array | Genotyping | 21 |
| nssv15626652 | copy number loss | 1-0055-003 | SNP array | Genotyping | 18 |
| nssv15632911 | copy number gain | 10-1031-004 | SNP array | Genotyping | 17 |
| nssv15634597 | copy number loss | 12-4264-005 | SNP array | Genotyping | 21 |
| nssv15645296 | copy number loss | 2-0129-002 | SNP array | Genotyping | 19 |
| nssv15646374 | copy number loss | 2-1182-002 | SNP array | Genotyping | 18 |
| nssv15652592 | copy number loss | 2-1562-001 | SNP array | Genotyping | 21 |
| nssv15655510 | copy number loss | 3-0179-000 | SNP array | Genotyping | 50 |
| nssv15657848 | copy number loss | 3-0391-000 | SNP array | Genotyping | 21 |
| nssv15685746 | copy number loss | OCD170-DJ-375_1808 | SNP array | Genotyping | 17 |
| nssv15689599 | copy number loss | OCD1114-896263 | SNP array | Genotyping | 17 |
| nssv15690849 | copy number loss | OCD170-RM-1810 | SNP array | Genotyping | 18 |
| nssv15690905 | copy number loss | OCD171-RS-1772 | SNP array | Genotyping | 14 |
| nssv15692242 | copy number loss | OCD67-896283 | SNP array | Genotyping | 15 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15611915 | Remapped | Perfect | NC_000006.12:g.(?_ 78259375)_(7833200 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,259,375 | 78,332,003 |
| nssv15615744 | Remapped | Perfect | NC_000006.12:g.(?_ 78259375)_(7833200 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,259,375 | 78,332,003 |
| nssv15626652 | Remapped | Perfect | NC_000006.12:g.(?_ 78259375)_(7833200 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,259,375 | 78,332,003 |
| nssv15632911 | Remapped | Perfect | NC_000006.12:g.(?_ 78259375)_(7833200 3_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,259,375 | 78,332,003 |
| nssv15634597 | Remapped | Perfect | NC_000006.12:g.(?_ 78259375)_(7833200 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,259,375 | 78,332,003 |
| nssv15645296 | Remapped | Perfect | NC_000006.12:g.(?_ 78259375)_(7833200 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,259,375 | 78,332,003 |
| nssv15646374 | Remapped | Perfect | NC_000006.12:g.(?_ 78259375)_(7833200 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,259,375 | 78,332,003 |
| nssv15652592 | Remapped | Perfect | NC_000006.12:g.(?_ 78259375)_(7833200 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,259,375 | 78,332,003 |
| nssv15655510 | Remapped | Perfect | NC_000006.12:g.(?_ 78259375)_(7833200 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,259,375 | 78,332,003 |
| nssv15657848 | Remapped | Perfect | NC_000006.12:g.(?_ 78259375)_(7833200 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,259,375 | 78,332,003 |
| nssv15685746 | Remapped | Perfect | NC_000006.12:g.(?_ 78259375)_(7833200 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,259,375 | 78,332,003 |
| nssv15689599 | Remapped | Perfect | NC_000006.12:g.(?_ 78259375)_(7833200 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,259,375 | 78,332,003 |
| nssv15690849 | Remapped | Perfect | NC_000006.12:g.(?_ 78259375)_(7833200 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,259,375 | 78,332,003 |
| nssv15690905 | Remapped | Perfect | NC_000006.12:g.(?_ 78259375)_(7833200 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,259,375 | 78,332,003 |
| nssv15692242 | Remapped | Perfect | NC_000006.12:g.(?_ 78259375)_(7833200 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,259,375 | 78,332,003 |
| nssv15611915 | Submitted genomic | NC_000006.11:g.(?_ 78969092)_(7904172 0_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,969,092 | 79,041,720 | ||
| nssv15615744 | Submitted genomic | NC_000006.11:g.(?_ 78969092)_(7904172 0_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,969,092 | 79,041,720 | ||
| nssv15626652 | Submitted genomic | NC_000006.11:g.(?_ 78969092)_(7904172 0_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,969,092 | 79,041,720 | ||
| nssv15632911 | Submitted genomic | NC_000006.11:g.(?_ 78969092)_(7904172 0_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,969,092 | 79,041,720 | ||
| nssv15634597 | Submitted genomic | NC_000006.11:g.(?_ 78969092)_(7904172 0_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,969,092 | 79,041,720 | ||
| nssv15645296 | Submitted genomic | NC_000006.11:g.(?_ 78969092)_(7904172 0_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,969,092 | 79,041,720 | ||
| nssv15646374 | Submitted genomic | NC_000006.11:g.(?_ 78969092)_(7904172 0_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,969,092 | 79,041,720 | ||
| nssv15652592 | Submitted genomic | NC_000006.11:g.(?_ 78969092)_(7904172 0_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,969,092 | 79,041,720 | ||
| nssv15655510 | Submitted genomic | NC_000006.11:g.(?_ 78969092)_(7904172 0_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,969,092 | 79,041,720 | ||
| nssv15657848 | Submitted genomic | NC_000006.11:g.(?_ 78969092)_(7904172 0_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,969,092 | 79,041,720 | ||
| nssv15685746 | Submitted genomic | NC_000006.11:g.(?_ 78969092)_(7904172 0_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,969,092 | 79,041,720 | ||
| nssv15689599 | Submitted genomic | NC_000006.11:g.(?_ 78969092)_(7904172 0_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,969,092 | 79,041,720 | ||
| nssv15690849 | Submitted genomic | NC_000006.11:g.(?_ 78969092)_(7904172 0_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,969,092 | 79,041,720 | ||
| nssv15690905 | Submitted genomic | NC_000006.11:g.(?_ 78969092)_(7904172 0_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,969,092 | 79,041,720 | ||
| nssv15692242 | Submitted genomic | NC_000006.11:g.(?_ 78969092)_(7904172 0_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 78,969,092 | 79,041,720 |