nsv6632601
- 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:47,327
- 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: 1131 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 703 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 895 SVs from 86 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6632601 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000008.11 | Chr8 | 2,175,961 | 2,223,287 |
| nsv6632601 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 359,361 | 406,165 |
| nsv6632601 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 2,124,151 | 2,170,955 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18282174 | deletion | OSC2213 | SNP array | Probe signal intensity | 12 |
| nssv18293214 | deletion | OSC4172 | SNP array | Probe signal intensity | 7 |
| nssv18293882 | deletion | OSC4170 | SNP array | Probe signal intensity | 11 |
| nssv18322467 | deletion | OSC1470 | SNP array | Probe signal intensity | 8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18282174 | Remapped | Perfect | NT_187576.1:g.(?_3 59361)_(406165_?)d el | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 359,361 | 406,165 |
| nssv18293214 | Remapped | Perfect | NT_187576.1:g.(?_3 59361)_(406165_?)d el | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 359,361 | 406,165 |
| nssv18293882 | Remapped | Perfect | NT_187576.1:g.(?_3 59361)_(406165_?)d el | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 359,361 | 406,165 |
| nssv18322467 | Remapped | Perfect | NT_187576.1:g.(?_3 59361)_(406165_?)d el | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 359,361 | 406,165 |
| nssv18282174 | Remapped | Good | NC_000008.11:g.(?_ 2175961)_(2223287_ ?)del | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 2,175,961 | 2,223,287 |
| nssv18293214 | Remapped | Good | NC_000008.11:g.(?_ 2175961)_(2223287_ ?)del | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 2,175,961 | 2,223,287 |
| nssv18293882 | Remapped | Good | NC_000008.11:g.(?_ 2175961)_(2223287_ ?)del | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 2,175,961 | 2,223,287 |
| nssv18322467 | Remapped | Good | NC_000008.11:g.(?_ 2175961)_(2223287_ ?)del | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 2,175,961 | 2,223,287 |
| nssv18282174 | Submitted genomic | NC_000008.10:g.(?_ 2124151)_(2170955_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,124,151 | 2,170,955 | ||
| nssv18293214 | Submitted genomic | NC_000008.10:g.(?_ 2124151)_(2170955_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,124,151 | 2,170,955 | ||
| nssv18293882 | Submitted genomic | NC_000008.10:g.(?_ 2124151)_(2170955_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,124,151 | 2,170,955 | ||
| nssv18322467 | Submitted genomic | NC_000008.10:g.(?_ 2124151)_(2170955_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,124,151 | 2,170,955 |