nsv4368508
- 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:1,323,114
- 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: 7141 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 7229 SVs from 112 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4368508 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 32,499,858 | 33,822,971 |
| nsv4368508 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 32,511,179 | 33,625,438 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15685645 | copy number gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv15685645 | Remapped | Pass | NC_000016.10:g.(?_ 32499858)_(3382297 1_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 32,499,858 | 33,822,971 |
| nssv15685645 | Submitted genomic | NC_000016.9:g.(?_3 2511179)_(33625438 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 32,511,179 | 33,625,438 |