nsv5260314
- Organism: Homo sapiens
- Study:nstd204 (Chen 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:368,200
- Publication(s):Chen 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: 1914 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 1933 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 1349 SVs from 63 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5260314 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000007.14 | Chr7 | 142,525,801 | 142,894,000 | ||
| nsv5260314 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 142,326,199 | 142,587,999 |
| nsv5260314 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_003571040.1 | Chr7|NW_00 3571040.1 | 709,605 | 1,096,714 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16846833 | copy number variation | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv16846833 | Submitted genomic | GRCh38.p13 | NC_000007.14 | Chr7 | 142,525,801 | 142,894,000 | ||
| nssv16846833 | Remapped | Pass | GRCh37.p13 | Second Pass | NW_003571040.1 | Chr7|NW_00 3571040.1 | 709,605 | 1,096,714 |
| nssv16846833 | Remapped | Pass | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 142,326,199 | 142,587,999 |