nsv4845991
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,055
- Publication(s):Abel et al. 2020
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: 188 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 31 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 189 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4845991 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 12,313,299 (-2, +45) | 12,319,353 (-25, +3) |
| nsv4845991 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 282,297 (-2, +45) | 288,351 (-25, +3) |
| nsv4845991 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 12,466,233 (-2, +45) | 12,472,287 (-25, +3) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16339654 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16339654 | Remapped | Perfect | NW_011332696.1:g.( 282295_282342)_(28 8326_288354)del | GRCh38.p12 | Second Pass | NW_011332696.1 | Chr12|NW_0 11332696.1 | 282,297 (-2, +45) | 288,351 (-25, +3) |
| nssv16339654 | Remapped | Perfect | NC_000012.12:g.(12 313297_12313344)_( 12319328_12319356) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 12,313,299 (-2, +45) | 12,319,353 (-25, +3) |
| nssv16339654 | Submitted genomic | NC_000012.11:g.(12 466231_12466278)_( 12472262_12472290) del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 12,466,233 (-2, +45) | 12,472,287 (-25, +3) |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16339654 | <0.001 | 1 | 16834 |