nsv6633907
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:99,604
- 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: 650 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 693 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6633907 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 39,004,143 | 39,103,746 |
| nsv6633907 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 39,004,140 | 39,103,743 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18287549 | deletion | OSC2973 | SNP array | Probe signal intensity | 6 |
| nssv18319994 | duplication | OSC1007 | SNP array | Probe signal intensity | 5 |
| nssv18320259 | duplication | OSC0937 | SNP array | Probe signal intensity | nssv18320258, nssv18320525 |
| nssv18321757 | duplication | OSC1177 | SNP array | Probe signal intensity | 6 |
| nssv18322394 | deletion | OSC1419 | SNP array | Probe signal intensity | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18287549 | Remapped | Perfect | NC_000009.12:g.(?_ 39004143)_(3910374 6_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 39,004,143 | 39,103,746 |
| nssv18319994 | Remapped | Perfect | NC_000009.12:g.(?_ 39004143)_(3910374 6_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 39,004,143 | 39,103,746 |
| nssv18320259 | Remapped | Perfect | NC_000009.12:g.(?_ 39004143)_(3910374 6_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 39,004,143 | 39,103,746 |
| nssv18321757 | Remapped | Perfect | NC_000009.12:g.(?_ 39004143)_(3910374 6_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 39,004,143 | 39,103,746 |
| nssv18322394 | Remapped | Perfect | NC_000009.12:g.(?_ 39004143)_(3910374 6_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 39,004,143 | 39,103,746 |
| nssv18287549 | Submitted genomic | NC_000009.11:g.(?_ 39004140)_(3910374 3_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 39,004,140 | 39,103,743 | ||
| nssv18319994 | Submitted genomic | NC_000009.11:g.(?_ 39004140)_(3910374 3_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 39,004,140 | 39,103,743 | ||
| nssv18320259 | Submitted genomic | NC_000009.11:g.(?_ 39004140)_(3910374 3_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 39,004,140 | 39,103,743 | ||
| nssv18321757 | Submitted genomic | NC_000009.11:g.(?_ 39004140)_(3910374 3_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 39,004,140 | 39,103,743 | ||
| nssv18322394 | Submitted genomic | NC_000009.11:g.(?_ 39004140)_(3910374 3_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 39,004,140 | 39,103,743 |