nsv6624990
- 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:156,595
- 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: 2465 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 2464 SVs from 94 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6624990 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 42,868,234 | 43,024,828 |
| nsv6624990 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 43,372,386 | 43,528,980 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18292753 | deletion | OSC4013 | SNP array | Probe signal intensity | nssv18292058, nssv18292059, nssv18293335 |
| nssv18293431 | deletion | OSC4082 | SNP array | Probe signal intensity | 9 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18292753 | Remapped | Perfect | NC_000019.10:g.(?_ 42868234)_(4302482 8_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,868,234 | 43,024,828 |
| nssv18293431 | Remapped | Perfect | NC_000019.10:g.(?_ 42868234)_(4302482 8_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 42,868,234 | 43,024,828 |
| nssv18292753 | Submitted genomic | NC_000019.9:g.(?_4 3372386)_(43528980 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,372,386 | 43,528,980 | ||
| nssv18293431 | Submitted genomic | NC_000019.9:g.(?_4 3372386)_(43528980 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 43,372,386 | 43,528,980 |