nsv4727970
- Organism: Homo sapiens
- Study:nstd197 (Boujemaa et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:61,092
- 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: 1211 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1653 SVs from 105 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4727970 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 217,315 | 278,406 |
| nsv4727970 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 24,323,140 | 24,384,231 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype |
|---|---|---|---|---|
| nssv16253681 | copy number loss | Sequencing | Read depth | Breast cancer |
| nssv16253682 | copy number loss | Sequencing | Read depth | Breast cancer |
| nssv16253670 | copy number loss | Sequencing | Read depth | Breast cancer |
| nssv16253674 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16253681 | Remapped | Perfect | NT_187633.1:g.2173 15_219410del | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 217,315 | 219,410 |
| nssv16253682 | Remapped | Perfect | NT_187633.1:g.2189 95_278406del | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 218,995 | 278,406 |
| nssv16253670 | Remapped | Perfect | NT_187633.1:g.2705 99_278406del | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 270,599 | 278,406 |
| nssv16253674 | Remapped | Perfect | NT_187633.1:g.2705 99_278406dup | GRCh38.p12 | First Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 270,599 | 278,406 |
| nssv16253681 | Remapped | Perfect | NC_000022.11:g.239 80949_23983044del | GRCh38.p12 | Second Pass | NC_000022.11 | Chr22 | 23,980,949 | 23,983,044 |
| nssv16253681 | Submitted genomic | NC_000022.10:g.243 23140_24325235del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,323,140 | 24,325,235 | ||
| nssv16253682 | Submitted genomic | NC_000022.10:g.243 24820_24384231del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,324,820 | 24,384,231 | ||
| nssv16253670 | Submitted genomic | NC_000022.10:g.243 76424_24384231del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,376,424 | 24,384,231 | ||
| nssv16253674 | Submitted genomic | NC_000022.10:g.243 76424_24384231dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,376,424 | 24,384,231 |