nsv6625807
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:57,749
- 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: 311 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 315 SVs from 50 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625807 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 166,576,511 | 166,634,259 |
| nsv6625807 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 166,545,748 | 166,603,496 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18298435 | deletion | OSC5052 | SNP array | Probe signal intensity | nssv18297865, nssv18298779 |
| nssv18299514 | deletion | OSC5163 | SNP array | Probe signal intensity | 9 |
| nssv18299630 | deletion | OSC5238 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18298435 | Remapped | Perfect | NC_000001.11:g.(?_ 166576511)_(166634 259_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 166,576,511 | 166,634,259 |
| nssv18299514 | Remapped | Perfect | NC_000001.11:g.(?_ 166576511)_(166634 259_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 166,576,511 | 166,634,259 |
| nssv18299630 | Remapped | Perfect | NC_000001.11:g.(?_ 166576511)_(166634 259_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 166,576,511 | 166,634,259 |
| nssv18298435 | Submitted genomic | NC_000001.10:g.(?_ 166545748)_(166603 496_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 166,545,748 | 166,603,496 | ||
| nssv18299514 | Submitted genomic | NC_000001.10:g.(?_ 166545748)_(166603 496_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 166,545,748 | 166,603,496 | ||
| nssv18299630 | Submitted genomic | NC_000001.10:g.(?_ 166545748)_(166603 496_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 166,545,748 | 166,603,496 |