nsv4846105
- 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:1,077
- 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 36 studies. See in: genome view
Overlapping variant regions from other studies: 43 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 188 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4846105 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 90,148,590 (-1, +3) | 90,149,666 (-3, +3) |
| nsv4846105 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_019805497.1 | Chr11|NW_0 19805497.1 | 54,713 (-1, +3) | 55,789 (-3, +3) |
| nsv4846105 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 89,881,758 (-1, +3) | 89,882,834 (-3, +3) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16337298 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16337298 | Remapped | Perfect | NW_019805497.1:g.( 54712_54716)_(5578 6_55792)del | GRCh38.p12 | Second Pass | NW_019805497.1 | Chr11|NW_0 19805497.1 | 54,713 (-1, +3) | 55,789 (-3, +3) |
| nssv16337298 | Remapped | Perfect | NC_000011.10:g.(90 148589_90148593)_( 90149663_90149669) del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 90,148,590 (-1, +3) | 90,149,666 (-3, +3) |
| nssv16337298 | Submitted genomic | NC_000011.9:g.(898 81757_89881761)_(8 9882831_89882837)d el | GRCh37 (hg19) | NC_000011.9 | Chr11 | 89,881,758 (-1, +3) | 89,882,834 (-3, +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) |
|---|---|---|---|
| nssv16337298 | <0.001 | 1 | 16834 |