nsv6624689
- 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:67,310
- 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: 539 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 351 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 520 SVs from 63 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6624689 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 20,675,819 | 20,743,128 |
| nsv6624689 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315962.1 | Chr19|NW_0 03315962.1 | 12,679 | 79,988 |
| nsv6624689 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 20,858,625 | 20,925,934 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18291694 | duplication | OSC3925 | SNP array | Probe signal intensity | nssv18291693, nssv18292279, nssv18291692 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18291694 | Remapped | Perfect | NW_003315962.1:g.( ?_12679)_(79988_?) dup | GRCh38.p12 | Second Pass | NW_003315962.1 | Chr19|NW_0 03315962.1 | 12,679 | 79,988 |
| nssv18291694 | Remapped | Perfect | NC_000019.10:g.(?_ 20675819)_(2074312 8_?)dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,675,819 | 20,743,128 |
| nssv18291694 | Submitted genomic | NC_000019.9:g.(?_2 0858625)_(20925934 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 20,858,625 | 20,925,934 |