nsv4996026
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:4,105
- 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: 147 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 145 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4996026 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 121,305,265 (-2, +57) | 121,309,369 (-55, +2) | ||
| nsv4996026 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 121,743,068 (-2, +57) | 121,747,172 (-55, +2) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16540708 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16540708 | Submitted genomic | NC_000012.12:g.(12 1305263_121305322) _(121309314_121309 371)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 121,305,265 (-2, +57) | 121,309,369 (-55, +2) | ||
| nssv16540708 | Remapped | Perfect | NC_000012.11:g.(12 1743066_121743125) _(121747117_121747 174)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 121,743,068 (-2, +57) | 121,747,172 (-55, +2) |
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) |
|---|---|---|---|
| nssv16540708 | <0.001 | 1 | 29246 |