nsv4368629
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:86,386
- Publication(s):Zarrei et al. 2019
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: 2484 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1745 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 2838 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4368629 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000014.9 | Chr14 | 105,605,043 | 105,691,428 |
| nsv4368629 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 72,812 | 159,197 |
| nsv4368629 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 106,044,263 | 106,157,765 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15685642 | copy number loss | OCD169-8961251 | SNP array | Genotyping | 22 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15685642 | Remapped | Pass | NT_187600.1:g.(?_7 2812)_(159197_?)de l | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 72,812 | 159,197 |
| nssv15685642 | Remapped | Pass | NC_000014.9:g.(?_1 05605043)_(1056914 28_?)del | GRCh38.p12 | Second Pass | NC_000014.9 | Chr14 | 105,605,043 | 105,691,428 |
| nssv15685642 | Submitted genomic | NC_000014.8:g.(?_1 06044263)_(1061577 65_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,044,263 | 106,157,765 |