nsv6114883
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:mobile element insertion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:52
- Description:nsv5405303 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: 282 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 282 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6114883 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 10,275,094 | 10,275,145 |
| nsv6114883 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 3,071,916 | 3,071,967 |
| nsv6114883 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 10,132,604 | 10,132,655 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17675511 | alu insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17675511 | Remapped | Perfect | NW_018654717.1:g.3 071916_3071967ins? | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 3,071,916 | 3,071,967 |
| nssv17675511 | Remapped | Perfect | NC_000008.11:g.102 75094_10275145ins? | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 10,275,094 | 10,275,145 |
| nssv17675511 | Submitted genomic | NC_000008.10:g.101 32604_10132655ins? | GRCh37 (hg19) | NC_000008.10 | Chr8 | 10,132,604 | 10,132,655 |
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) |
|---|---|---|---|
| nssv17675511 | 0.111 | 712 | 6404 |