nsv7099185
- Organism: Homo sapiens
- Study:nstd231 (Ali et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:186,637
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: 610 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 326 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 610 SVs from 67 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv7099185 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 23,256,354 | - | 23,442,990 |
| nsv7099185 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_014040926.1 | Chr1|NW_01 4040926.1 | - | 47,042 | 212,969 |
| nsv7099185 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 23,582,847 | - | 23,769,483 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18792912 | duplication | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv18792912 | Remapped | Pass | NW_014040926.1:g.( ?_47042)_(?_212969 )dup | GRCh38.p12 | Second Pass | NW_014040926.1 | Chr1|NW_01 4040926.1 | - | 47,042 | 212,969 |
| nssv18792912 | Remapped | Perfect | NC_000001.11:g.(23 256354_?)_(?_23442 990)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 23,256,354 | - | 23,442,990 |
| nssv18792912 | Submitted genomic | NC_000001.10:g.(23 582847_?)_(?_23769 483)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 23,582,847 | - | 23,769,483 |