nsv6308020
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:mobile element deletion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,401
- Description:nsv6147098 from Byrska-Bishop et. al 2021. 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: 187 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 41 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 187 SVs from 53 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6308020 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 127,094,858 | 127,101,258 |
| nsv6308020 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_019805499.1 | Chr12|NW_0 19805499.1 | 41,382 | 47,782 |
| nsv6308020 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 127,579,403 | 127,585,803 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17962492 | mobile element deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17962492 | Remapped | Perfect | NW_019805499.1:g.4 1382_47782del | GRCh38.p12 | Second Pass | NW_019805499.1 | Chr12|NW_0 19805499.1 | 41,382 | 47,782 |
| nssv17962492 | Remapped | Perfect | NC_000012.12:g.127 094858_127101258de l | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 127,094,858 | 127,101,258 |
| nssv17962492 | Submitted genomic | NC_000012.11:g.127 579403_127585803de l | GRCh37 (hg19) | NC_000012.11 | Chr12 | 127,579,403 | 127,585,803 |
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) |
|---|---|---|---|
| nssv17962492 | 0.037 | 238 | 6404 |