nsv5393474
- 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:6,237
- Description:nsv4878989 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: 357 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 358 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5393474 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 11,935,080 | 11,941,316 |
| nsv5393474 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 11,953,199 | 11,959,435 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16867922 | line1 deletion | Curated | Curated |
| nssv16884523 | line1 deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16867922 | Remapped | Perfect | NC_000023.11:g.119 35080_11941316del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 11,935,080 | 11,941,316 |
| nssv16884523 | Remapped | Perfect | NC_000023.11:g.119 35080_11941316del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 11,935,080 | 11,941,316 |
| nssv16867922 | Submitted genomic | NC_000023.10:g.119 53199_11959435del | GRCh37 (hg19) | NC_000023.10 | ChrX | 11,953,199 | 11,959,435 | ||
| nssv16884523 | Submitted genomic | NC_000023.10:g.119 53199_11959435del | GRCh37 (hg19) | NC_000023.10 | ChrX | 11,953,199 | 11,959,435 |
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) |
|---|---|---|---|
| nssv16867922 | 0.337 | 9842 | 29246 |
| nssv16884523 | 0.325 | 5463 | 16834 |