nsv3170356
- 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:4,094,199
- 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: 13886 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 13886 SVs from 122 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3170356 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 82,141,105 | 86,235,303 |
| nsv3170356 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 82,174,710 | 86,268,909 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv14252586 | copy number loss | 177.30 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14252586 | Remapped | Perfect | NC_000016.10:g.821 41105_86235303del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 82,141,105 | 86,235,303 |
| nssv14252586 | Submitted genomic | NC_000016.9:g.8217 4710_86268909del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 82,174,710 | 86,268,909 |