nsv5383794
- 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:209
- Description:nsv4774754 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: 114 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 114 SVs from 42 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5383794 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 7,751,867 | 7,752,075 |
| nsv5383794 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 7,793,830 | 7,794,038 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16875570 | alu deletion | Curated | Curated |
| nssv16883890 | alu deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16875570 | Remapped | Perfect | NC_000010.11:g.775 1867_7752075del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 7,751,867 | 7,752,075 |
| nssv16883890 | Remapped | Perfect | NC_000010.11:g.775 1867_7752075del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 7,751,867 | 7,752,075 |
| nssv16875570 | Submitted genomic | NC_000010.10:g.779 3830_7794038del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 7,793,830 | 7,794,038 | ||
| nssv16883890 | Submitted genomic | NC_000010.10:g.779 3830_7794038del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 7,793,830 | 7,794,038 |
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) |
|---|---|---|---|
| nssv16875570 | 0.85 | 14308 | 16834 |
| nssv16883890 | 0.874 | 25560 | 29246 |