nsv6630435
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:91,722
- 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: 2251 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 2251 SVs from 108 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6630435 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 730,156 | 821,877 |
| nsv6630435 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 730,271 | 821,992 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18282532 | duplication | OSC2242 | SNP array | Probe signal intensity | 5 |
| nssv18284971 | duplication | OSC2662 | SNP array | Probe signal intensity | nssv18284970, nssv18284363, nssv18284362 |
| nssv18286321 | duplication | OSC2737 | SNP array | Probe signal intensity | 6 |
| nssv18325022 | duplication | OSC1961 | SNP array | Probe signal intensity | nssv18325021, nssv18325020 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18282532 | Remapped | Perfect | NC_000005.10:g.(?_ 730156)_(821877_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 730,156 | 821,877 |
| nssv18284971 | Remapped | Perfect | NC_000005.10:g.(?_ 730156)_(821877_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 730,156 | 821,877 |
| nssv18286321 | Remapped | Perfect | NC_000005.10:g.(?_ 730156)_(821877_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 730,156 | 821,877 |
| nssv18325022 | Remapped | Perfect | NC_000005.10:g.(?_ 730156)_(821877_?) dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 730,156 | 821,877 |
| nssv18282532 | Submitted genomic | NC_000005.9:g.(?_7 30271)_(821992_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 730,271 | 821,992 | ||
| nssv18284971 | Submitted genomic | NC_000005.9:g.(?_7 30271)_(821992_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 730,271 | 821,992 | ||
| nssv18286321 | Submitted genomic | NC_000005.9:g.(?_7 30271)_(821992_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 730,271 | 821,992 | ||
| nssv18325022 | Submitted genomic | NC_000005.9:g.(?_7 30271)_(821992_?)d up | GRCh37 (hg19) | NC_000005.9 | Chr5 | 730,271 | 821,992 |