nsv5383933
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:mobile element deletion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:287
- Description:nsv4777960 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: 150 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 150 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5383933 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 190,572,861 | 190,573,147 |
| nsv5383933 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 190,290,650 | 190,290,936 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16872127 | alu deletion | Curated | Curated |
| nssv16881977 | alu deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16872127 | Remapped | Perfect | NC_000003.12:g.190 572861_190573147de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 190,572,861 | 190,573,147 |
| nssv16881977 | Remapped | Perfect | NC_000003.12:g.190 572861_190573147de l | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 190,572,861 | 190,573,147 |
| nssv16872127 | Submitted genomic | NC_000003.11:g.190 290650_190290936de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 190,290,650 | 190,290,936 | ||
| nssv16881977 | Submitted genomic | NC_000003.11:g.190 290650_190290936de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 190,290,650 | 190,290,936 |
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) |
|---|---|---|---|
| nssv16872127 | 0.401 | 6742 | 16834 |
| nssv16881977 | 0.406 | 11860 | 29246 |