nsv5567554
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:531,272
- Publication(s):Ebert et al. 2021
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: 2740 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 2737 SVs from 120 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5567554 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 76,515,456 | 77,046,727 | ||
| nsv5567554 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 76,144,773 | 76,676,044 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17148251 | deletion | SAMN00006580 | Sequencing | Sequence alignment | 9,409 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17148251 | Submitted genomic | NC_000007.14:g.765 15456_77046727delG | GRCh38 (hg38) | NC_000007.14 | Chr7 | 76,515,456 | 77,046,727 | ||
| nssv17148251 | Remapped | Perfect | NC_000007.13:g.761 44773_76676044delG | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 76,144,773 | 76,676,044 |