nsv5382231
- 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:301
- Description:nsv4777631 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: 244 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 244 SVs from 52 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5382231 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 23,369,924 | 23,370,224 |
| nsv5382231 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 24,742,246 | 24,742,546 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16879030 | alu deletion | Curated | Curated |
| nssv16879085 | alu deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16879030 | Remapped | Perfect | NC_000021.9:g.2336 9924_23370224del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 23,369,924 | 23,370,224 |
| nssv16879085 | Remapped | Perfect | NC_000021.9:g.2336 9924_23370224del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 23,369,924 | 23,370,224 |
| nssv16879030 | Submitted genomic | NC_000021.8:g.2474 2246_24742546del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 24,742,246 | 24,742,546 | ||
| nssv16879085 | Submitted genomic | NC_000021.8:g.2474 2246_24742546del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 24,742,246 | 24,742,546 |
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) |
|---|---|---|---|
| nssv16879030 | 0.482 | 14106 | 29246 |
| nssv16879085 | 0.513 | 8637 | 16834 |