nsv5386793
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,938
- Description:nsv4813917 from Abel et. al 2020. For a full list of variants now included in nstd186, refer to the mapping file provided here.
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: 416 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 449 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5386793 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000008.11 | Chr8 | 144,420,213 | 144,422,150 |
| nsv5386793 | Remapped | Perfect | GRCh38.p12 | PATCHES | First Pass | NW_018654716.1 | Chr8|NW_01 8654716.1 | 150,816 | 152,752 |
| nsv5386793 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 145,645,597 | 145,647,533 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16870363 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16870363 | Remapped | Perfect | NW_018654716.1:g.1 50816_152752del | GRCh38.p12 | First Pass | NW_018654716.1 | Chr8|NW_01 8654716.1 | 150,816 | 152,752 |
| nssv16870363 | Remapped | Good | NC_000008.11:g.144 420213_144422150de l | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 144,420,213 | 144,422,150 |
| nssv16870363 | Submitted genomic | NC_000008.10:g.145 645597_145647533de l | GRCh37 (hg19) | NC_000008.10 | Chr8 | 145,645,597 | 145,647,533 |
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) |
|---|---|---|---|
| nssv16870363 | 0.044 | 747 | 16834 |