nsv6632089
- 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:15,924
- 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: 543 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 394 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 405 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 592 SVs from 72 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6632089 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 43,748 | 59,671 |
| nsv6632089 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1 | 15,770 |
| nsv6632089 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 36,069 | 51,992 |
| nsv6632089 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 43,748 | 59,671 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18305341 | duplication | OSC6318 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18305341 | Remapped | Good | NT_187558.1:g.(?_1 )_(15770_?)dup | GRCh38.p12 | Second Pass | NT_187558.1 | Chr7|NT_18 7558.1 | 1 | 15,770 |
| nssv18305341 | Remapped | Perfect | NT_187653.1:g.(?_3 6069)_(51992_?)dup | GRCh38.p12 | Second Pass | NT_187653.1 | Chr7|NT_18 7653.1 | 36,069 | 51,992 |
| nssv18305341 | Remapped | Perfect | NC_000007.14:g.(?_ 43748)_(59671_?)du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 43,748 | 59,671 |
| nssv18305341 | Submitted genomic | NC_000007.13:g.(?_ 43748)_(59671_?)du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 43,748 | 59,671 |