nsv4769098
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:insertion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:nsv4685450 from Lee 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: 173 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 40 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 173 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4769098 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 90,267,332 | 90,267,332 |
| nsv4769098 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_019805497.1 | Chr11|NW_0 19805497.1 | 204,266 | 204,266 |
| nsv4769098 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 90,000,500 | 90,000,500 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16252721 | insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16252721 | Remapped | Perfect | NW_019805497.1:g.2 04266_204267ins? | GRCh38.p12 | Second Pass | NW_019805497.1 | Chr11|NW_0 19805497.1 | 204,266 | 204,266 |
| nssv16252721 | Remapped | Perfect | NC_000011.10:g.902 67332_90267333ins? | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 90,267,332 | 90,267,332 |
| nssv16252721 | Submitted genomic | NC_000011.9:g.9000 0500_90000501ins? | GRCh37 (hg19) | NC_000011.9 | Chr11 | 90,000,500 | 90,000,500 |
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) |
|---|---|---|---|
| nssv16252721 | 0.068 | 140 | 2056 |