nsv4388178
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:35,360
- 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: 318 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 318 SVs from 49 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4388178 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 121,338,569 | 121,373,928 |
| nsv4388178 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 120,674,264 | 120,709,623 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15639063 | copy number loss | 14-0246-003 | SNP array | Genotyping | 25 |
| nssv15658964 | copy number loss | 4-0056-001 | SNP array | Genotyping | 25 |
| nssv15659004 | copy number loss | 4-0056-003 | SNP array | Genotyping | 19 |
| nssv15679119 | copy number loss | 242406S | SNP array | Genotyping | 25 |
| nssv15683523 | copy number loss | OCD125-896992 | SNP array | Genotyping | 24 |
| nssv15683548 | copy number loss | OCD125-896993 | SNP array | Genotyping | 28 |
| nssv15693395 | copy number loss | OCD93-JW-1412 | SNP array | Genotyping | 17 |
| nssv15697522 | copy number loss | 168089 | SNP array | Genotyping | 18 |
| nssv15698155 | copy number loss | 125563 | SNP array | Genotyping | 21 |
| nssv15700178 | copy number loss | 183790 | SNP array | Genotyping | 27 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15639063 | Remapped | Perfect | NC_000005.10:g.(?_ 121338569)_(121373 928_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 121,338,569 | 121,373,928 |
| nssv15658964 | Remapped | Perfect | NC_000005.10:g.(?_ 121338569)_(121373 928_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 121,338,569 | 121,373,928 |
| nssv15659004 | Remapped | Perfect | NC_000005.10:g.(?_ 121338569)_(121373 928_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 121,338,569 | 121,373,928 |
| nssv15679119 | Remapped | Perfect | NC_000005.10:g.(?_ 121338569)_(121373 928_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 121,338,569 | 121,373,928 |
| nssv15683523 | Remapped | Perfect | NC_000005.10:g.(?_ 121338569)_(121373 928_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 121,338,569 | 121,373,928 |
| nssv15683548 | Remapped | Perfect | NC_000005.10:g.(?_ 121338569)_(121373 928_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 121,338,569 | 121,373,928 |
| nssv15693395 | Remapped | Perfect | NC_000005.10:g.(?_ 121338569)_(121373 928_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 121,338,569 | 121,373,928 |
| nssv15697522 | Remapped | Perfect | NC_000005.10:g.(?_ 121338569)_(121373 928_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 121,338,569 | 121,373,928 |
| nssv15698155 | Remapped | Perfect | NC_000005.10:g.(?_ 121338569)_(121373 928_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 121,338,569 | 121,373,928 |
| nssv15700178 | Remapped | Perfect | NC_000005.10:g.(?_ 121338569)_(121373 928_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 121,338,569 | 121,373,928 |
| nssv15639063 | Submitted genomic | NC_000005.9:g.(?_1 20674264)_(1207096 23_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,674,264 | 120,709,623 | ||
| nssv15658964 | Submitted genomic | NC_000005.9:g.(?_1 20674264)_(1207096 23_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,674,264 | 120,709,623 | ||
| nssv15659004 | Submitted genomic | NC_000005.9:g.(?_1 20674264)_(1207096 23_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,674,264 | 120,709,623 | ||
| nssv15679119 | Submitted genomic | NC_000005.9:g.(?_1 20674264)_(1207096 23_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,674,264 | 120,709,623 | ||
| nssv15683523 | Submitted genomic | NC_000005.9:g.(?_1 20674264)_(1207096 23_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,674,264 | 120,709,623 | ||
| nssv15683548 | Submitted genomic | NC_000005.9:g.(?_1 20674264)_(1207096 23_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,674,264 | 120,709,623 | ||
| nssv15693395 | Submitted genomic | NC_000005.9:g.(?_1 20674264)_(1207096 23_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,674,264 | 120,709,623 | ||
| nssv15697522 | Submitted genomic | NC_000005.9:g.(?_1 20674264)_(1207096 23_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,674,264 | 120,709,623 | ||
| nssv15698155 | Submitted genomic | NC_000005.9:g.(?_1 20674264)_(1207096 23_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,674,264 | 120,709,623 | ||
| nssv15700178 | Submitted genomic | NC_000005.9:g.(?_1 20674264)_(1207096 23_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 120,674,264 | 120,709,623 |