nsv5384565
- 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:313
- Description:nsv4777410 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: 153 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 153 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5384565 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 169,029,726 | 169,030,038 |
| nsv5384565 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 169,886,236 | 169,886,548 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16872126 | alu deletion | Curated | Curated |
| nssv16875145 | alu deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16872126 | Remapped | Perfect | NC_000002.12:g.169 029726_169030038de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 169,029,726 | 169,030,038 |
| nssv16875145 | Remapped | Perfect | NC_000002.12:g.169 029726_169030038de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 169,029,726 | 169,030,038 |
| nssv16872126 | Submitted genomic | NC_000002.11:g.169 886236_169886548de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 169,886,236 | 169,886,548 | ||
| nssv16875145 | Submitted genomic | NC_000002.11:g.169 886236_169886548de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 169,886,236 | 169,886,548 |
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) |
|---|---|---|---|
| nssv16872126 | 0.109 | 1832 | 16834 |
| nssv16875145 | 0.115 | 3356 | 29246 |