nsv6632453
- 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:164,958
- 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: 1296 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 1295 SVs from 105 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6632453 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 76,845,597 | 77,010,554 |
| nsv6632453 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 76,474,914 | 76,639,871 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18287793 | duplication | OSC3117 | SNP array | Probe signal intensity | nssv18287761, nssv18287760, nssv18287759 |
| nssv18290475 | duplication | OSC3717 | SNP array | Probe signal intensity | 6 |
| nssv18292057 | duplication | OSC4012 | SNP array | Probe signal intensity | nssv18293334 |
| nssv18292802 | duplication | OSC4049 | SNP array | Probe signal intensity | 6 |
| nssv18293909 | duplication | OSC4200 | SNP array | Probe signal intensity | 11 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18287793 | Remapped | Perfect | NC_000007.14:g.(?_ 76845597)_(7701055 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,845,597 | 77,010,554 |
| nssv18290475 | Remapped | Perfect | NC_000007.14:g.(?_ 76845597)_(7701055 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,845,597 | 77,010,554 |
| nssv18292057 | Remapped | Perfect | NC_000007.14:g.(?_ 76845597)_(7701055 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,845,597 | 77,010,554 |
| nssv18292802 | Remapped | Perfect | NC_000007.14:g.(?_ 76845597)_(7701055 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,845,597 | 77,010,554 |
| nssv18293909 | Remapped | Perfect | NC_000007.14:g.(?_ 76845597)_(7701055 4_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,845,597 | 77,010,554 |
| nssv18287793 | Submitted genomic | NC_000007.13:g.(?_ 76474914)_(7663987 1_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,474,914 | 76,639,871 | ||
| nssv18290475 | Submitted genomic | NC_000007.13:g.(?_ 76474914)_(7663987 1_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,474,914 | 76,639,871 | ||
| nssv18292057 | Submitted genomic | NC_000007.13:g.(?_ 76474914)_(7663987 1_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,474,914 | 76,639,871 | ||
| nssv18292802 | Submitted genomic | NC_000007.13:g.(?_ 76474914)_(7663987 1_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,474,914 | 76,639,871 | ||
| nssv18293909 | Submitted genomic | NC_000007.13:g.(?_ 76474914)_(7663987 1_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,474,914 | 76,639,871 |