nsv6628879
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:43,842
- Publication(s):Zarrei et al. 2023
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: 586 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 588 SVs from 59 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6628879 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 40,338 | 84,179 |
| nsv6628879 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 82,010 | 125,862 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18286086 | duplication | OSC2805 | SNP array | Probe signal intensity | 7 |
| nssv18290037 | duplication | OSC3435 | SNP array | Probe signal intensity | 7 |
| nssv18291653 | duplication | OSC3901 | SNP array | Probe signal intensity | 9 |
| nssv18294669 | duplication | OSC4310 | SNP array | Probe signal intensity | 6 |
| nssv18294727 | duplication | OSC4358 | SNP array | Probe signal intensity | 5 |
| nssv18322726 | duplication | OSC1387 | SNP array | Probe signal intensity | 7 |
| nssv18324895 | duplication | OSC1875 | SNP array | Probe signal intensity | nssv18324894, nssv18324896 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18286086 | Remapped | Good | NC_000003.12:g.(?_ 40338)_(84179_?)du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 40,338 | 84,179 |
| nssv18290037 | Remapped | Good | NC_000003.12:g.(?_ 40338)_(84179_?)du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 40,338 | 84,179 |
| nssv18291653 | Remapped | Good | NC_000003.12:g.(?_ 40338)_(84179_?)du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 40,338 | 84,179 |
| nssv18294669 | Remapped | Good | NC_000003.12:g.(?_ 40338)_(84179_?)du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 40,338 | 84,179 |
| nssv18294727 | Remapped | Good | NC_000003.12:g.(?_ 40338)_(84179_?)du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 40,338 | 84,179 |
| nssv18322726 | Remapped | Good | NC_000003.12:g.(?_ 40338)_(84179_?)du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 40,338 | 84,179 |
| nssv18324895 | Remapped | Good | NC_000003.12:g.(?_ 40338)_(84179_?)du p | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 40,338 | 84,179 |
| nssv18286086 | Submitted genomic | NC_000003.11:g.(?_ 82010)_(125862_?)d up | GRCh37 (hg19) | NC_000003.11 | Chr3 | 82,010 | 125,862 | ||
| nssv18290037 | Submitted genomic | NC_000003.11:g.(?_ 82010)_(125862_?)d up | GRCh37 (hg19) | NC_000003.11 | Chr3 | 82,010 | 125,862 | ||
| nssv18291653 | Submitted genomic | NC_000003.11:g.(?_ 82010)_(125862_?)d up | GRCh37 (hg19) | NC_000003.11 | Chr3 | 82,010 | 125,862 | ||
| nssv18294669 | Submitted genomic | NC_000003.11:g.(?_ 82010)_(125862_?)d up | GRCh37 (hg19) | NC_000003.11 | Chr3 | 82,010 | 125,862 | ||
| nssv18294727 | Submitted genomic | NC_000003.11:g.(?_ 82010)_(125862_?)d up | GRCh37 (hg19) | NC_000003.11 | Chr3 | 82,010 | 125,862 | ||
| nssv18322726 | Submitted genomic | NC_000003.11:g.(?_ 82010)_(125862_?)d up | GRCh37 (hg19) | NC_000003.11 | Chr3 | 82,010 | 125,862 | ||
| nssv18324895 | Submitted genomic | NC_000003.11:g.(?_ 82010)_(125862_?)d up | GRCh37 (hg19) | NC_000003.11 | Chr3 | 82,010 | 125,862 |