nsv4727971
- 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:16,755
- 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: 161 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 161 SVs from 41 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4727971 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 25,032,610 | 25,049,364 |
nsv4727971 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 25,428,577 | 25,445,331 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype |
---|---|---|---|---|
nssv16253675 | copy number loss | Sequencing | Read depth | Breast cancer |
nssv16253671 | copy number loss | Sequencing | Read depth | Breast cancer |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16253675 | Remapped | Perfect | NC_000022.11:g.250 32610_25041525del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 25,032,610 | 25,041,525 |
nssv16253671 | Remapped | Perfect | NC_000022.11:g.250 32610_25049364del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 25,032,610 | 25,049,364 |
nssv16253675 | Submitted genomic | NC_000022.10:g.254 28577_25437492del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,428,577 | 25,437,492 | ||
nssv16253671 | Submitted genomic | NC_000022.10:g.254 28577_25445331del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 25,428,577 | 25,445,331 |