nsv4380612
- 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:48,174
- 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: 688 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 688 SVs from 83 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4380612 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 19,591,676 | 19,639,849 |
| nsv4380612 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 19,494,989 | 19,543,162 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15615813 | copy number loss | 1-0785-003 | SNP array | Genotyping | 13 |
| nssv15624078 | copy number loss | 1-0291-001 | SNP array | Genotyping | 12 |
| nssv15630730 | copy number loss | 1-0619-003 | SNP array | Genotyping | 25 |
| nssv15633727 | copy number loss | 12-4139-003 | SNP array | Genotyping | 27 |
| nssv15636425 | copy number loss | 13-0049-004 | SNP array | Genotyping | 27 |
| nssv15662601 | copy number loss | 5-0085-001 | SNP array | Genotyping | 21 |
| nssv15666907 | copy number loss | 7-0142-003 | SNP array | Genotyping | 23 |
| nssv15673611 | copy number loss | 9-0043-002 | SNP array | Genotyping | 15 |
| nssv15676889 | copy number loss | 184234 | SNP array | Genotyping | 20 |
| nssv15678395 | copy number loss | 193289 | SNP array | Genotyping | 22 |
| nssv15681356 | copy number loss | OCD102-1580 | SNP array | Genotyping | 19 |
| nssv15687982 | copy number loss | 192221 | SNP array | Genotyping | 18 |
| nssv15690025 | copy number loss | OCD1163-0625-7948-2 | SNP array | Genotyping | 22 |
| nssv15700924 | copy number loss | 228636 | SNP array | Genotyping | 29 |
| nssv15702751 | copy number loss | 198042 | SNP array | Genotyping | 22 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15615813 | Remapped | Perfect | NC_000017.11:g.(?_ 19591676)_(1963984 9_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 19,591,676 | 19,639,849 |
| nssv15624078 | Remapped | Perfect | NC_000017.11:g.(?_ 19591676)_(1963984 9_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 19,591,676 | 19,639,849 |
| nssv15630730 | Remapped | Perfect | NC_000017.11:g.(?_ 19591676)_(1963984 9_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 19,591,676 | 19,639,849 |
| nssv15633727 | Remapped | Perfect | NC_000017.11:g.(?_ 19591676)_(1963984 9_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 19,591,676 | 19,639,849 |
| nssv15636425 | Remapped | Perfect | NC_000017.11:g.(?_ 19591676)_(1963984 9_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 19,591,676 | 19,639,849 |
| nssv15662601 | Remapped | Perfect | NC_000017.11:g.(?_ 19591676)_(1963984 9_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 19,591,676 | 19,639,849 |
| nssv15666907 | Remapped | Perfect | NC_000017.11:g.(?_ 19591676)_(1963984 9_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 19,591,676 | 19,639,849 |
| nssv15673611 | Remapped | Perfect | NC_000017.11:g.(?_ 19591676)_(1963984 9_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 19,591,676 | 19,639,849 |
| nssv15676889 | Remapped | Perfect | NC_000017.11:g.(?_ 19591676)_(1963984 9_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 19,591,676 | 19,639,849 |
| nssv15678395 | Remapped | Perfect | NC_000017.11:g.(?_ 19591676)_(1963984 9_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 19,591,676 | 19,639,849 |
| nssv15681356 | Remapped | Perfect | NC_000017.11:g.(?_ 19591676)_(1963984 9_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 19,591,676 | 19,639,849 |
| nssv15687982 | Remapped | Perfect | NC_000017.11:g.(?_ 19591676)_(1963984 9_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 19,591,676 | 19,639,849 |
| nssv15690025 | Remapped | Perfect | NC_000017.11:g.(?_ 19591676)_(1963984 9_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 19,591,676 | 19,639,849 |
| nssv15700924 | Remapped | Perfect | NC_000017.11:g.(?_ 19591676)_(1963984 9_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 19,591,676 | 19,639,849 |
| nssv15702751 | Remapped | Perfect | NC_000017.11:g.(?_ 19591676)_(1963984 9_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 19,591,676 | 19,639,849 |
| nssv15615813 | Submitted genomic | NC_000017.10:g.(?_ 19494989)_(1954316 2_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 19,494,989 | 19,543,162 | ||
| nssv15624078 | Submitted genomic | NC_000017.10:g.(?_ 19494989)_(1954316 2_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 19,494,989 | 19,543,162 | ||
| nssv15630730 | Submitted genomic | NC_000017.10:g.(?_ 19494989)_(1954316 2_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 19,494,989 | 19,543,162 | ||
| nssv15633727 | Submitted genomic | NC_000017.10:g.(?_ 19494989)_(1954316 2_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 19,494,989 | 19,543,162 | ||
| nssv15636425 | Submitted genomic | NC_000017.10:g.(?_ 19494989)_(1954316 2_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 19,494,989 | 19,543,162 | ||
| nssv15662601 | Submitted genomic | NC_000017.10:g.(?_ 19494989)_(1954316 2_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 19,494,989 | 19,543,162 | ||
| nssv15666907 | Submitted genomic | NC_000017.10:g.(?_ 19494989)_(1954316 2_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 19,494,989 | 19,543,162 | ||
| nssv15673611 | Submitted genomic | NC_000017.10:g.(?_ 19494989)_(1954316 2_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 19,494,989 | 19,543,162 | ||
| nssv15676889 | Submitted genomic | NC_000017.10:g.(?_ 19494989)_(1954316 2_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 19,494,989 | 19,543,162 | ||
| nssv15678395 | Submitted genomic | NC_000017.10:g.(?_ 19494989)_(1954316 2_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 19,494,989 | 19,543,162 | ||
| nssv15681356 | Submitted genomic | NC_000017.10:g.(?_ 19494989)_(1954316 2_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 19,494,989 | 19,543,162 | ||
| nssv15687982 | Submitted genomic | NC_000017.10:g.(?_ 19494989)_(1954316 2_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 19,494,989 | 19,543,162 | ||
| nssv15690025 | Submitted genomic | NC_000017.10:g.(?_ 19494989)_(1954316 2_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 19,494,989 | 19,543,162 | ||
| nssv15700924 | Submitted genomic | NC_000017.10:g.(?_ 19494989)_(1954316 2_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 19,494,989 | 19,543,162 | ||
| nssv15702751 | Submitted genomic | NC_000017.10:g.(?_ 19494989)_(1954316 2_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 19,494,989 | 19,543,162 |