nsv4387972
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:19
- Validation:Not tested
- Clinical Assertions: No
- Region Size:439,806
- 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: 2683 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 2810 SVs from 101 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4387972 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 22,065,488 | 22,505,293 |
| nsv4387972 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 22,533,752 | 22,974,280 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15625442 | copy number gain | 1-0414-001 | SNP array | Genotyping | 15 |
| nssv15628240 | copy number gain | 1-0489-001 | SNP array | Genotyping | 21 |
| nssv15629398 | copy number gain | 1-0546-001 | SNP array | Genotyping | 17 |
| nssv15630548 | copy number gain | 1-0576-002 | SNP array | Genotyping | 25 |
| nssv15634082 | copy number gain | 11-0023-003 | SNP array | Genotyping | 24 |
| nssv15637466 | copy number gain | 13-0095-004 | SNP array | Genotyping | 24 |
| nssv15637854 | copy number gain | 14-0025-001 | SNP array | Genotyping | 19 |
| nssv15647348 | copy number gain | 2-1238-003 | SNP array | Genotyping | 19 |
| nssv15661293 | copy number gain | 5-0066-003 | SNP array | Genotyping | 27 |
| nssv15662449 | copy number gain | 5-0045-003 | SNP array | Genotyping | 22 |
| nssv15669248 | copy number gain | 7-0168-003 | SNP array | Genotyping | 21 |
| nssv15683445 | copy number gain | OCD124-B_188563 | SNP array | Genotyping | 28 |
| nssv15685237 | copy number gain | OCD116-S_1694 | SNP array | Genotyping | 26 |
| nssv15687409 | copy number gain | OCD48-0625-6045-2 | SNP array | Genotyping | 22 |
| nssv15688589 | copy number gain | OCD35-S_0555-6300-1 | SNP array | Genotyping | 20 |
| nssv15688752 | copy number gain | OCD46-S_0625-5375-2 | SNP array | Genotyping | 15 |
| nssv15697600 | copy number gain | 170508 | SNP array | Genotyping | 18 |
| nssv15699994 | copy number gain | 169623 | SNP array | Genotyping | 20 |
| nssv15701033 | copy number gain | 187962 | SNP array | Genotyping | 25 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15625442 | Remapped | Good | NC_000014.9:g.(?_2 2065488)_(22505293 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,065,488 | 22,505,293 |
| nssv15628240 | Remapped | Good | NC_000014.9:g.(?_2 2065488)_(22505293 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,065,488 | 22,505,293 |
| nssv15629398 | Remapped | Good | NC_000014.9:g.(?_2 2065488)_(22505293 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,065,488 | 22,505,293 |
| nssv15630548 | Remapped | Good | NC_000014.9:g.(?_2 2065488)_(22505293 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,065,488 | 22,505,293 |
| nssv15634082 | Remapped | Good | NC_000014.9:g.(?_2 2065488)_(22505293 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,065,488 | 22,505,293 |
| nssv15637466 | Remapped | Good | NC_000014.9:g.(?_2 2065488)_(22505293 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,065,488 | 22,505,293 |
| nssv15637854 | Remapped | Good | NC_000014.9:g.(?_2 2065488)_(22505293 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,065,488 | 22,505,293 |
| nssv15647348 | Remapped | Good | NC_000014.9:g.(?_2 2065488)_(22505293 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,065,488 | 22,505,293 |
| nssv15661293 | Remapped | Good | NC_000014.9:g.(?_2 2065488)_(22505293 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,065,488 | 22,505,293 |
| nssv15662449 | Remapped | Good | NC_000014.9:g.(?_2 2065488)_(22505293 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,065,488 | 22,505,293 |
| nssv15669248 | Remapped | Good | NC_000014.9:g.(?_2 2065488)_(22505293 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,065,488 | 22,505,293 |
| nssv15683445 | Remapped | Good | NC_000014.9:g.(?_2 2065488)_(22505293 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,065,488 | 22,505,293 |
| nssv15685237 | Remapped | Good | NC_000014.9:g.(?_2 2065488)_(22505293 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,065,488 | 22,505,293 |
| nssv15687409 | Remapped | Good | NC_000014.9:g.(?_2 2065488)_(22505293 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,065,488 | 22,505,293 |
| nssv15688589 | Remapped | Good | NC_000014.9:g.(?_2 2065488)_(22505293 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,065,488 | 22,505,293 |
| nssv15688752 | Remapped | Good | NC_000014.9:g.(?_2 2065488)_(22505293 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,065,488 | 22,505,293 |
| nssv15697600 | Remapped | Good | NC_000014.9:g.(?_2 2065488)_(22505293 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,065,488 | 22,505,293 |
| nssv15699994 | Remapped | Good | NC_000014.9:g.(?_2 2065488)_(22505293 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,065,488 | 22,505,293 |
| nssv15701033 | Remapped | Good | NC_000014.9:g.(?_2 2065488)_(22505293 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,065,488 | 22,505,293 |
| nssv15625442 | Submitted genomic | NC_000014.8:g.(?_2 2533752)_(22974280 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,533,752 | 22,974,280 | ||
| nssv15628240 | Submitted genomic | NC_000014.8:g.(?_2 2533752)_(22974280 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,533,752 | 22,974,280 | ||
| nssv15629398 | Submitted genomic | NC_000014.8:g.(?_2 2533752)_(22974280 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,533,752 | 22,974,280 | ||
| nssv15630548 | Submitted genomic | NC_000014.8:g.(?_2 2533752)_(22974280 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,533,752 | 22,974,280 | ||
| nssv15634082 | Submitted genomic | NC_000014.8:g.(?_2 2533752)_(22974280 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,533,752 | 22,974,280 | ||
| nssv15637466 | Submitted genomic | NC_000014.8:g.(?_2 2533752)_(22974280 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,533,752 | 22,974,280 | ||
| nssv15637854 | Submitted genomic | NC_000014.8:g.(?_2 2533752)_(22974280 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,533,752 | 22,974,280 | ||
| nssv15647348 | Submitted genomic | NC_000014.8:g.(?_2 2533752)_(22974280 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,533,752 | 22,974,280 | ||
| nssv15661293 | Submitted genomic | NC_000014.8:g.(?_2 2533752)_(22974280 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,533,752 | 22,974,280 | ||
| nssv15662449 | Submitted genomic | NC_000014.8:g.(?_2 2533752)_(22974280 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,533,752 | 22,974,280 | ||
| nssv15669248 | Submitted genomic | NC_000014.8:g.(?_2 2533752)_(22974280 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,533,752 | 22,974,280 | ||
| nssv15683445 | Submitted genomic | NC_000014.8:g.(?_2 2533752)_(22974280 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,533,752 | 22,974,280 | ||
| nssv15685237 | Submitted genomic | NC_000014.8:g.(?_2 2533752)_(22974280 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,533,752 | 22,974,280 | ||
| nssv15687409 | Submitted genomic | NC_000014.8:g.(?_2 2533752)_(22974280 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,533,752 | 22,974,280 | ||
| nssv15688589 | Submitted genomic | NC_000014.8:g.(?_2 2533752)_(22974280 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,533,752 | 22,974,280 | ||
| nssv15688752 | Submitted genomic | NC_000014.8:g.(?_2 2533752)_(22974280 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,533,752 | 22,974,280 | ||
| nssv15697600 | Submitted genomic | NC_000014.8:g.(?_2 2533752)_(22974280 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,533,752 | 22,974,280 | ||
| nssv15699994 | Submitted genomic | NC_000014.8:g.(?_2 2533752)_(22974280 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,533,752 | 22,974,280 | ||
| nssv15701033 | Submitted genomic | NC_000014.8:g.(?_2 2533752)_(22974280 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,533,752 | 22,974,280 |