nsv4375561
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:450,483
- 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: 2750 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 2881 SVs from 101 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4375561 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 22,058,619 | 22,509,101 |
| nsv4375561 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 22,526,881 | 22,978,085 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15657840 | copy number gain | 3-0391-000 | SNP array | Genotyping | 21 |
| nssv15673402 | copy number gain | 9-0039-003 | SNP array | Genotyping | 19 |
| nssv15686735 | copy number gain | OCD24-S_896443 | SNP array | Genotyping | 16 |
| nssv15697229 | copy number gain | 155931 | SNP array | Genotyping | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15657840 | Remapped | Good | NC_000014.9:g.(?_2 2058619)_(22509101 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,058,619 | 22,509,101 |
| nssv15673402 | Remapped | Good | NC_000014.9:g.(?_2 2058619)_(22509101 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,058,619 | 22,509,101 |
| nssv15686735 | Remapped | Good | NC_000014.9:g.(?_2 2058619)_(22509101 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,058,619 | 22,509,101 |
| nssv15697229 | Remapped | Good | NC_000014.9:g.(?_2 2058619)_(22509101 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 22,058,619 | 22,509,101 |
| nssv15657840 | Submitted genomic | NC_000014.8:g.(?_2 2526881)_(22978085 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,526,881 | 22,978,085 | ||
| nssv15673402 | Submitted genomic | NC_000014.8:g.(?_2 2526881)_(22978085 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,526,881 | 22,978,085 | ||
| nssv15686735 | Submitted genomic | NC_000014.8:g.(?_2 2526881)_(22978085 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,526,881 | 22,978,085 | ||
| nssv15697229 | Submitted genomic | NC_000014.8:g.(?_2 2526881)_(22978085 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,526,881 | 22,978,085 |