nsv6131564
- 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:nsv5559017 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: 446 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 104 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 444 SVs from 58 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6131564 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 45,583,245 | 45,583,296 |
| nsv6131564 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 285,384 | 285,435 |
| nsv6131564 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 43,660,611 | 43,660,662 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17968334 | sva insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17968334 | Remapped | Perfect | NT_187663.1:g.2853 84_285435ins? | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 285,384 | 285,435 |
| nssv17968334 | Remapped | Perfect | NC_000017.11:g.455 83245_45583296ins? | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,583,245 | 45,583,296 |
| nssv17968334 | Submitted genomic | NC_000017.10:g.436 60611_43660662ins? | GRCh37 (hg19) | NC_000017.10 | Chr17 | 43,660,611 | 43,660,662 |
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) |
|---|---|---|---|
| nssv17968334 | 0.064 | 404 | 6284 |