nsv984743
- Organism: Homo sapiens
- Study:nstd92 (Forsberg et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:133,147,558
- Publication(s):Forsberg et al. 2014
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: 363436 SVs from 148 studies. See in: genome view
Overlapping variant regions from other studies: 362047 SVs from 148 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv984743 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 54,653 | 133,202,210 |
| nsv984743 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 163,819 | 133,778,796 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv3217406 | copy number gain | PIVUS466 | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3217406 | Remapped | Good | NC_000012.12:g.(?_ 54653)_(133202210_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 54,653 | 133,202,210 |
| nssv3217406 | Submitted genomic | NC_000012.11:g.(?_ 163819)_(133778796 _?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 163,819 | 133,778,796 |