nsv6623596
- 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:11,206
- 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: 282 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 282 SVs from 59 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6623596 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 3,057,034 | 3,068,239 |
| nsv6623596 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 3,107,035 | 3,118,240 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18286523 | deletion | OSC2891 | SNP array | Probe signal intensity | nssv18285825, nssv18286201, nssv18286548 |
| nssv18286758 | duplication | OSC0313 | SNP array | Probe signal intensity | 9 |
| nssv18296630 | deletion | OSC4812 | SNP array | Probe signal intensity | 6 |
| nssv18324059 | deletion | OSC1682 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18286523 | Remapped | Perfect | NC_000016.10:g.(?_ 3057034)_(3068239_ ?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 3,057,034 | 3,068,239 |
| nssv18286758 | Remapped | Perfect | NC_000016.10:g.(?_ 3057034)_(3068239_ ?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 3,057,034 | 3,068,239 |
| nssv18296630 | Remapped | Perfect | NC_000016.10:g.(?_ 3057034)_(3068239_ ?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 3,057,034 | 3,068,239 |
| nssv18324059 | Remapped | Perfect | NC_000016.10:g.(?_ 3057034)_(3068239_ ?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 3,057,034 | 3,068,239 |
| nssv18286523 | Submitted genomic | NC_000016.9:g.(?_3 107035)_(3118240_? )del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 3,107,035 | 3,118,240 | ||
| nssv18286758 | Submitted genomic | NC_000016.9:g.(?_3 107035)_(3118240_? )dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 3,107,035 | 3,118,240 | ||
| nssv18296630 | Submitted genomic | NC_000016.9:g.(?_3 107035)_(3118240_? )del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 3,107,035 | 3,118,240 | ||
| nssv18324059 | Submitted genomic | NC_000016.9:g.(?_3 107035)_(3118240_? )del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 3,107,035 | 3,118,240 |