nsv4378388
- 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:112,882
- 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: 374 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 374 SVs from 49 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4378388 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 53,743,011 | 53,855,892 |
| nsv4378388 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 53,970,148 | 54,083,029 |
Variant Call Information
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15621496 | Remapped | Perfect | NC_000002.12:g.(?_ 53743011)_(5385589 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 53,743,011 | 53,855,892 |
| nssv15622638 | Remapped | Perfect | NC_000002.12:g.(?_ 53743011)_(5385589 2_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 53,743,011 | 53,855,892 |
| nssv15621496 | Submitted genomic | NC_000002.11:g.(?_ 53970148)_(5408302 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 53,970,148 | 54,083,029 | ||
| nssv15622638 | Submitted genomic | NC_000002.11:g.(?_ 53970148)_(5408302 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 53,970,148 | 54,083,029 |