nsv950279
- 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:119,800
- 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: 978 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 642 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1035 SVs from 89 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv950279 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000008.11 | Chr8 | 2,507,588 | 2,627,027 |
| nsv950279 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 675,271 | 795,070 |
| nsv950279 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 2,364,701 | 2,484,500 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv2998681 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv2998681 | Remapped | Perfect | NT_187576.1:g.(675 271_?)_(?_795070)d up | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 675,271 | 795,070 |
| nssv2998681 | Remapped | Good | NC_000008.11:g.(25 07588_?)_(?_262702 7)dup | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 2,507,588 | 2,627,027 |
| nssv2998681 | Submitted genomic | NC_000008.10:g.(23 64701_?)_(?_248450 0)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,364,701 | 2,484,500 |