nsv5384644
- 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:307
- Description:nsv4893282 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: 235 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 235 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5384644 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 17,104,713 | 17,105,019 |
| nsv5384644 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 16,962,222 | 16,962,528 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16872280 | alu deletion | Curated | Curated |
| nssv16884068 | alu deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16872280 | Remapped | Perfect | NC_000008.11:g.171 04713_17105019del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 17,104,713 | 17,105,019 |
| nssv16884068 | Remapped | Perfect | NC_000008.11:g.171 04713_17105019del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 17,104,713 | 17,105,019 |
| nssv16872280 | Submitted genomic | NC_000008.10:g.169 62222_16962528del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 16,962,222 | 16,962,528 | ||
| nssv16884068 | Submitted genomic | NC_000008.10:g.169 62222_16962528del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 16,962,222 | 16,962,528 |
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) |
|---|---|---|---|
| nssv16872280 | 0.618 | 10403 | 16834 |
| nssv16884068 | 0.572 | 16724 | 29244 |