nsv1077505
- Organism: Homo sapiens
- Study:nstd99 (Thareja et al. 2015)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:89,702
- Publication(s):Thareja et al. 2015
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: 996 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1038 SVs from 98 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1077505 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 430,309 | 520,010 |
| nsv1077505 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 2,195,099 | 2,284,800 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3765483 | duplication | KWP1 | Sequencing | Read depth and paired-end mapping | 11,116 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3765483 | Remapped | Perfect | NT_187576.1:g.4303 09_520010dup | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 430,309 | 520,010 |
| nssv3765483 | Submitted genomic | NC_000008.10:g.219 5099_2284800dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 2,195,099 | 2,284,800 |