nsv3216338
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:59,586
- Publication(s):Chaisson et al. 2019
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: 237 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 237 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3216338 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 85,822,809 (-15, +15) | 85,882,394 (-15, +15) | ||
| nsv3216338 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 87,582,566 (-15, +15) | 87,642,151 (-15, +15) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14354846 | duplication | SAMN00006466 | Sequencing | Sequence alignment | Heterozygous | 14,137 |
| nssv14354847 | duplication | HG00514 | Sequencing | Sequence alignment | Heterozygous | 39,861 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14354846 | Submitted genomic | NC_000010.11:g.(85 822794_85822824)_( 85882379_85882409) dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 85,822,809 (-15, +15) | 85,882,394 (-15, +15) | ||
| nssv14354847 | Submitted genomic | NC_000010.11:g.(85 822794_85822824)_( 85882379_85882409) dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 85,822,809 (-15, +15) | 85,882,394 (-15, +15) | ||
| nssv14354846 | Remapped | Perfect | NC_000010.10:g.(87 582551_87582581)_( 87642136_87642166) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 87,582,566 (-15, +15) | 87,642,151 (-15, +15) |
| nssv14354847 | Remapped | Perfect | NC_000010.10:g.(87 582551_87582581)_( 87642136_87642166) dup | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 87,582,566 (-15, +15) | 87,642,151 (-15, +15) |