nsv6627505
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:138,154
- 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: 313 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 313 SVs from 34 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627505 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 11,905,331 | 12,043,484 |
| nsv6627505 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 12,045,457 | 12,183,610 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18291237 | duplication | OSC3624 | SNP array | Probe signal intensity | nssv18290356, nssv18291238 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18291237 | Remapped | Perfect | NC_000002.12:g.(?_ 11905331)_(1204348 4_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 11,905,331 | 12,043,484 |
| nssv18291237 | Submitted genomic | NC_000002.11:g.(?_ 12045457)_(1218361 0_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 12,045,457 | 12,183,610 |