nsv954886
- Organism: Homo sapiens
- Study:nstd73 (Dogan et al. 2014)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:71,500
- Publication(s):Dogan 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: 308 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 129 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 308 SVs from 52 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv954886 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 72,374,650 | 72,446,149 |
| nsv954886 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_011332691.1 | Chr3|NW_01 1332691.1 | 49,224 | 120,590 |
| nsv954886 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 72,423,801 | 72,495,300 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3001413 | duplication | SAMN01096093 | Sequencing | Read depth | 9,109 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3001413 | Remapped | Good | NW_011332691.1:g.( 49224_?)_(?_120590 )dup | GRCh38.p12 | Second Pass | NW_011332691.1 | Chr3|NW_01 1332691.1 | 49,224 | 120,590 |
| nssv3001413 | Remapped | Perfect | NC_000003.12:g.(72 374650_?)_(?_72446 149)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 72,374,650 | 72,446,149 |
| nssv3001413 | Submitted genomic | NC_000003.11:g.(72 423801_?)_(?_72495 300)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 72,423,801 | 72,495,300 |