nsv4727898
- Organism: Homo sapiens
- Study:nstd197 (Boujemaa et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:23,248
- 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: 246 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 442 SVs from 60 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4727898 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,230,995 | 2,254,242 |
nsv4727898 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 36,351,930 | 36,375,177 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype |
---|---|---|---|---|
nssv16253543 | copy number loss | Sequencing | Read depth | Breast cancer |
nssv16253544 | copy number loss | Sequencing | Read depth | Breast cancer |
nssv16253545 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv16253543 | Remapped | Perfect | NT_187614.1:g.2230 995_2232830del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,230,995 | 2,232,830 |
nssv16253544 | Remapped | Perfect | NT_187614.1:g.2231 488_2244241del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,231,488 | 2,244,241 |
nssv16253545 | Remapped | Perfect | NT_187614.1:g.2231 488_2254242del | GRCh38.p12 | First Pass | NT_187614.1 | Chr17|NT_1 87614.1 | 2,231,488 | 2,254,242 |
nssv16253543 | Submitted genomic | NC_000017.10:g.363 51930_36353765del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,351,930 | 36,353,765 | ||
nssv16253544 | Submitted genomic | NC_000017.10:g.363 52423_36365176del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,352,423 | 36,365,176 | ||
nssv16253545 | Submitted genomic | NC_000017.10:g.363 52423_36375177del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 36,352,423 | 36,375,177 |