nsv6304518
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:243
- Description:nsv5485232 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: 138 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 6 studies. See in: genome view
Overlapping variant regions from other studies: 138 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6304518 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 144,426,257 | 144,426,499 |
| nsv6304518 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654715.1 | Chr7|NW_01 8654715.1 | 475,713 | 475,955 |
| nsv6304518 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 144,123,350 | 144,123,592 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17968384 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17968384 | Remapped | Perfect | NW_018654715.1:g.4 75713_475955del | GRCh38.p12 | Second Pass | NW_018654715.1 | Chr7|NW_01 8654715.1 | 475,713 | 475,955 |
| nssv17968384 | Remapped | Perfect | NC_000007.14:g.144 426257_144426499de l | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 144,426,257 | 144,426,499 |
| nssv17968384 | Submitted genomic | NC_000007.13:g.144 123350_144123592de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 144,123,350 | 144,123,592 |
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) |
|---|---|---|---|
| nssv17968384 | 0.023 | 147 | 6404 |