nsv4727946
- 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:22,485
- 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: 683 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 683 SVs from 86 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4727946 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 97,196,594 | 97,219,078 |
nsv4727946 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 97,862,331 | 97,884,815 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype |
---|---|---|---|---|
nssv16253652 | copy number loss | Sequencing | Read depth | Breast cancer |
nssv16253650 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv16253652 | Remapped | Perfect | NC_000002.12:g.971 96594_97202393del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,196,594 | 97,202,393 |
nssv16253650 | Remapped | Perfect | NC_000002.12:g.971 96594_97219078del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,196,594 | 97,219,078 |
nssv16253652 | Submitted genomic | NC_000002.11:g.978 62331_97868130del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 97,862,331 | 97,868,130 | ||
nssv16253650 | Submitted genomic | NC_000002.11:g.978 62331_97884815del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 97,862,331 | 97,884,815 |