nsv3168453
- Organism: Homo sapiens
- Study:nstd158 (Cleal et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:313,540
- Publication(s):Cleal 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: 631 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 631 SVs from 62 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3168453 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 117,779,353 (-3, +3) | 118,092,892 (-3, +3) |
| nsv3168453 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 117,419,407 (-3, +3) | 117,732,946 (-3, +3) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14239641 | duplication | DB78 | Sequencing | Paired-end mapping | 26 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14239641 | Remapped | Perfect | NC_000007.14:g.(11 7779350_117779356) _(118092889_118092 895)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 117,779,353 (-3, +3) | 118,092,892 (-3, +3) |
| nssv14239641 | Submitted genomic | NC_000007.13:g.(11 7419404_117419410) _(117732943_117732 949)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 117,419,407 (-3, +3) | 117,732,946 (-3, +3) |