nsv3070045
- Organism: Homo sapiens
- Study:nstd90 (dbSNP curated variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:951
- Data Source:BCMHGSC_JDW
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: 206 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 206 SVs from 57 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3070045 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 127,836,638 | 127,837,588 |
| nsv3070045 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 127,172,330 | 127,173,280 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv14041317 | deletion | JWB-4117749 | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14041317 | Remapped | Perfect | NC_000005.10:g.127 836638_127837588de l951 | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 127,836,638 | 127,837,588 |
| nssv14041317 | Submitted genomic | NC_000005.9:g.1271 72330_127173280del 951 | GRCh37 (hg19) | NC_000005.9 | Chr5 | 127,172,330 | 127,173,280 |