nsv3170357
- 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:2,624,955
- 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: 10029 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 10029 SVs from 120 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3170357 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 83,637,918 | 86,262,872 |
| nsv3170357 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 83,671,523 | 86,296,478 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv14252587 | copy number loss | 179.30 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14252587 | Remapped | Perfect | NC_000016.10:g.836 37918_86262872del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 83,637,918 | 86,262,872 |
| nssv14252587 | Submitted genomic | NC_000016.9:g.8367 1523_86296478del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 83,671,523 | 86,296,478 |