nsv4388406
- 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:568,738
- 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: 2984 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 3126 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4388406 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 21,940,628 | 22,509,365 |
| nsv4388406 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 22,408,813 | 22,978,349 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15677440 | copy number gain | 163536 | SNP array | Genotyping | 25 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15677440 | Remapped | Good | NC_000014.9:g.(?_2 1940628)_(22509365 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 21,940,628 | 22,509,365 |
| nssv15677440 | Submitted genomic | NC_000014.8:g.(?_2 2408813)_(22978349 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,408,813 | 22,978,349 |