nsv5386226
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:305
- Description:nsv4842396 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: 134 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5386226 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 126,660,012 | 126,660,316 |
| nsv5386226 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 129,422,291 | 129,422,595 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16880131 | duplication | Curated | Curated |
| nssv16883651 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16880131 | Remapped | Perfect | NC_000009.12:g.126 660012_126660316du p | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 126,660,012 | 126,660,316 |
| nssv16883651 | Remapped | Perfect | NC_000009.12:g.126 660012_126660316du p | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 126,660,012 | 126,660,316 |
| nssv16880131 | Submitted genomic | NC_000009.11:g.129 422291_129422595du p | GRCh37 (hg19) | NC_000009.11 | Chr9 | 129,422,291 | 129,422,595 | ||
| nssv16883651 | Submitted genomic | NC_000009.11:g.129 422291_129422595du p | GRCh37 (hg19) | NC_000009.11 | Chr9 | 129,422,291 | 129,422,595 |
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) |
|---|---|---|---|
| nssv16880131 | 0.159 | 4653 | 29246 |
| nssv16883651 | 0.185 | 3118 | 16834 |