nsv4727901
- 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:745,885
- 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: 5175 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 2906 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 5001 SVs from 118 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4727901 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 45,437,859 | 46,172,143 |
| nsv4727901 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 128,364 | 874,248 |
| nsv4727901 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 43,515,225 | 44,249,509 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| nssv16253536 | copy number loss | Sequencing | Read depth | Breast cancer |
| nssv16253538 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253536 | Remapped | Good | NT_187663.1:g.1283 64_784643del | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 128,364 | 784,643 |
| nssv16253538 | Remapped | Good | NT_187663.1:g.1283 64_874248del | GRCh38.p12 | Second Pass | NT_187663.1 | Chr17|NT_1 87663.1 | 128,364 | 874,248 |
| nssv16253536 | Remapped | Perfect | NC_000017.11:g.454 37859_46082542del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,437,859 | 46,082,542 |
| nssv16253538 | Remapped | Perfect | NC_000017.11:g.454 37859_46172143del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 45,437,859 | 46,172,143 |
| nssv16253536 | Submitted genomic | NC_000017.10:g.435 15225_44159908del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 43,515,225 | 44,159,908 | ||
| nssv16253538 | Submitted genomic | NC_000017.10:g.435 15225_44249509del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 43,515,225 | 44,249,509 |