nsv5390426
- 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:198
- Description:nsv5009060 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: 182 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 182 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5390426 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 74,894,000 | 74,894,197 |
| nsv5390426 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 75,186,341 | 75,186,538 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16878554 | duplication | Curated | Curated |
| nssv16888812 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16878554 | Remapped | Perfect | NC_000015.10:g.748 94000_74894197dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 74,894,000 | 74,894,197 |
| nssv16888812 | Remapped | Perfect | NC_000015.10:g.748 94000_74894197dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 74,894,000 | 74,894,197 |
| nssv16878554 | Submitted genomic | NC_000015.9:g.7518 6341_75186538dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 75,186,341 | 75,186,538 | ||
| nssv16888812 | Submitted genomic | NC_000015.9:g.7518 6341_75186538dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 75,186,341 | 75,186,538 |
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) |
|---|---|---|---|
| nssv16878554 | 0.031 | 522 | 16834 |
| nssv16888812 | 0.032 | 923 | 29246 |