nsv4727922
- Organism: Homo sapiens
- Study:nstd197 (Boujemaa et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,203
- Publication(s):Boujemaa et al. 2021
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: 61 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 222 SVs from 52 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4727922 | Remapped | Perfect | GRCh38.p12 | PATCHES | First Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 158,889 | 169,091 |
| nsv4727922 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 40,389,653 | 40,399,855 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| nssv16253582 | copy number gain | Sequencing | Read depth | Breast cancer |
| nssv16253583 | copy number gain | Sequencing | Read depth | Breast cancer |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253582 | Remapped | Perfect | NW_009646206.1:g.1 58889_167746dup | GRCh38.p12 | First Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 158,889 | 167,746 |
| nssv16253583 | Remapped | Perfect | NW_009646206.1:g.1 58889_169091dup | GRCh38.p12 | First Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 158,889 | 169,091 |
| nssv16253582 | Submitted genomic | NC_000019.9:g.4038 9653_40398510dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,389,653 | 40,398,510 | ||
| nssv16253583 | Submitted genomic | NC_000019.9:g.4038 9653_40399855dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,389,653 | 40,399,855 |