nsv4376507
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:234,352
- 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: 720 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 720 SVs from 75 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4376507 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 49,805,899 | 50,040,250 |
| nsv4376507 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 50,199,682 | 50,434,033 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15633931 | Remapped | Perfect | NC_000012.12:g.(?_ 49805899)_(5004025 0_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 49,805,899 | 50,040,250 |
| nssv15633952 | Remapped | Perfect | NC_000012.12:g.(?_ 49805899)_(5004025 0_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 49,805,899 | 50,040,250 |
| nssv15633931 | Submitted genomic | NC_000012.11:g.(?_ 50199682)_(5043403 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 50,199,682 | 50,434,033 | ||
| nssv15633952 | Submitted genomic | NC_000012.11:g.(?_ 50199682)_(5043403 3_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 50,199,682 | 50,434,033 |