nsv953488
- 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:71,982
- 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: 750 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 750 SVs from 77 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv953488 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | - | 97,490,656 | 97,562,637 |
| nsv953488 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 98,106,501 | - | 98,179,100 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3001831 | 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 | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv3001831 | Remapped | Good | NC_000002.12:g.(?_ 97490656)_(?_97562 637)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | - | 97,490,656 | 97,562,637 |
| nssv3001831 | Submitted genomic | NC_000002.11:g.(98 106501_?)_(?_98179 100)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,106,501 | - | 98,179,100 |