nsv3318245
- 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:13,356
- 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: 180 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 180 SVs from 34 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3318245 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 144,126,296 | 144,139,651 |
| nsv3318245 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 144,883,863 | 144,897,218 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14468346 | copy number loss | M2143 | SNP array | SNP genotyping analysis | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14468346 | Remapped | Perfect | NC_000002.12:g.(?_ 144126296)_(144139 651_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 144,126,296 | 144,139,651 |
| nssv14468346 | Submitted genomic | NC_000002.11:g.(?_ 144883863)_(144897 218_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 144,883,863 | 144,897,218 |