nsv3317983
- Organism: Homo sapiens
- Study:nstd157 (Frenkel et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:7,283
- Publication(s):Frenkel et al. 2019
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: 260 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 260 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3317983 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 112,929,271 | 112,936,553 |
| nsv3317983 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 112,264,968 | 112,272,250 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14470280 | copy number loss | M2324 | SNP array | SNP genotyping analysis | 19 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14470280 | Remapped | Perfect | NC_000005.10:g.(?_ 112929271)_(112936 553_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 112,929,271 | 112,936,553 |
| nssv14470280 | Submitted genomic | NC_000005.9:g.(?_1 12264968)_(1122722 50_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 112,264,968 | 112,272,250 |