nsv5383598
- 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:323
- Description:nsv4785935 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: 164 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 164 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5383598 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 52,232,997 | 52,233,319 |
| nsv5383598 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 52,525,194 | 52,525,516 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16872888 | alu deletion | Curated | Curated |
| nssv16884784 | alu deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16872888 | Remapped | Perfect | NC_000015.10:g.522 32997_52233319del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 52,232,997 | 52,233,319 |
| nssv16884784 | Remapped | Perfect | NC_000015.10:g.522 32997_52233319del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 52,232,997 | 52,233,319 |
| nssv16872888 | Submitted genomic | NC_000015.9:g.5252 5194_52525516del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 52,525,194 | 52,525,516 | ||
| nssv16884784 | Submitted genomic | NC_000015.9:g.5252 5194_52525516del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 52,525,194 | 52,525,516 |
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) |
|---|---|---|---|
| nssv16872888 | 0.724 | 21169 | 29246 |
| nssv16884784 | 0.731 | 12302 | 16834 |