nsv5393552
- 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:176
- Description:nsv5035920 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: 301 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 301 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5393552 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 107,501,358 | 107,501,533 |
| nsv5393552 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 106,744,588 | 106,744,763 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16883779 | alu deletion | Curated | Curated |
| nssv16888762 | alu deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16883779 | Remapped | Perfect | NC_000023.11:g.107 501358_107501533de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 107,501,358 | 107,501,533 |
| nssv16888762 | Remapped | Perfect | NC_000023.11:g.107 501358_107501533de l | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 107,501,358 | 107,501,533 |
| nssv16883779 | Submitted genomic | NC_000023.10:g.106 744588_106744763de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 106,744,588 | 106,744,763 | ||
| nssv16888762 | Submitted genomic | NC_000023.10:g.106 744588_106744763de l | GRCh37 (hg19) | NC_000023.10 | ChrX | 106,744,588 | 106,744,763 |
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) |
|---|---|---|---|
| nssv16883779 | 0.044 | 747 | 16814 |
| nssv16888762 | 0.044 | 1280 | 29208 |