nsv5382975
- 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:490
- Description:nsv4788170 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: 236 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 239 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5382975 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 247,433,584 | 247,434,073 |
| nsv5382975 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 247,596,886 | 247,597,375 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16877846 | duplication | Curated | Curated |
| nssv16878180 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16877846 | Remapped | Perfect | NC_000001.11:g.247 433584_247434073du p | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 247,433,584 | 247,434,073 |
| nssv16878180 | Remapped | Perfect | NC_000001.11:g.247 433584_247434073du p | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 247,433,584 | 247,434,073 |
| nssv16877846 | Submitted genomic | NC_000001.10:g.247 596886_247597375du p | GRCh37 (hg19) | NC_000001.10 | Chr1 | 247,596,886 | 247,597,375 | ||
| nssv16878180 | Submitted genomic | NC_000001.10:g.247 596886_247597375du p | GRCh37 (hg19) | NC_000001.10 | Chr1 | 247,596,886 | 247,597,375 |
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) |
|---|---|---|---|
| nssv16877846 | 0.127 | 3725 | 29246 |
| nssv16878180 | 0.117 | 1970 | 16834 |