nsv6628558
- 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:312,429
- 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: 1959 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 384 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 1959 SVs from 91 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6628558 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 197,304,737 | 197,617,165 |
| nsv6628558 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187534.1 | Chr3|NT_18 7534.1 | 1 | 162,429 |
| nsv6628558 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 197,031,608 | 197,344,036 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18309759 | duplication | OSC7015 | SNP array | Probe signal intensity | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18309759 | Remapped | Pass | NT_187534.1:g.(?_1 )_(162429_?)dup | GRCh38.p12 | Second Pass | NT_187534.1 | Chr3|NT_18 7534.1 | 1 | 162,429 |
| nssv18309759 | Remapped | Perfect | NC_000003.12:g.(?_ 197304737)_(197617 165_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 197,304,737 | 197,617,165 |
| nssv18309759 | Submitted genomic | NC_000003.11:g.(?_ 197031608)_(197344 036_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 197,031,608 | 197,344,036 |