nsv6631813
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:279,605
- 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: 751 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 751 SVs from 73 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6631813 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 112,131,199 | 112,410,803 |
| nsv6631813 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 111,771,254 | 112,050,858 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18299507 | duplication | OSC5158 | SNP array | Probe signal intensity | nssv18299505, nssv18298938, nssv18298937 |
| nssv18299521 | duplication | OSC5166 | SNP array | Probe signal intensity | 12 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18299507 | Remapped | Perfect | NC_000007.14:g.(?_ 112131199)_(112410 803_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 112,131,199 | 112,410,803 |
| nssv18299521 | Remapped | Perfect | NC_000007.14:g.(?_ 112131199)_(112410 803_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 112,131,199 | 112,410,803 |
| nssv18299507 | Submitted genomic | NC_000007.13:g.(?_ 111771254)_(112050 858_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 111,771,254 | 112,050,858 | ||
| nssv18299521 | Submitted genomic | NC_000007.13:g.(?_ 111771254)_(112050 858_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 111,771,254 | 112,050,858 |