nsv6627961
- 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:48,172
- 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: 305 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 305 SVs from 47 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627961 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 52,302,845 | 52,351,016 |
| nsv6627961 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 52,529,983 | 52,578,154 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18288003 | deletion | OSC3256 | SNP array | Probe signal intensity | nssv18288240, nssv18288241, nssv18288573 |
| nssv18317059 | deletion | OSC0861 | SNP array | Probe signal intensity | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18288003 | Remapped | Perfect | NC_000002.12:g.(?_ 52302845)_(5235101 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 52,302,845 | 52,351,016 |
| nssv18317059 | Remapped | Perfect | NC_000002.12:g.(?_ 52302845)_(5235101 6_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 52,302,845 | 52,351,016 |
| nssv18288003 | Submitted genomic | NC_000002.11:g.(?_ 52529983)_(5257815 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 52,529,983 | 52,578,154 | ||
| nssv18317059 | Submitted genomic | NC_000002.11:g.(?_ 52529983)_(5257815 4_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 52,529,983 | 52,578,154 |