nsv3170360
- Organism: Homo sapiens
- Study:nstd153 (Szafranski et al. 2018)
- Variant Type:copy number variation
- Method Type:Oligo aCGH, PCR, Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:361,207
- Publication(s):Szafranski et al. 2018
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: 1342 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1342 SVs from 83 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3170360 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 85,876,898 | 86,238,104 |
| nsv3170360 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 85,910,504 | 86,271,710 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv14252582 | copy number loss | 54.30 | Oligo aCGH, PCR, Sequencing | Manual observation, Probe signal intensity, Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14252582 | Remapped | Perfect | NC_000016.10:g.858 76898_86238104del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 85,876,898 | 86,238,104 |
| nssv14252582 | Submitted genomic | NC_000016.9:g.8591 0504_86271710del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 85,910,504 | 86,271,710 |