nsv3193747
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:123,747
- 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: 411 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 411 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3193747 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 39,793,706 (-10, +12) | 39,917,452 (-4, +5) | ||
| nsv3193747 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 39,793,808 (-10, +12) | 39,917,554 (-4, +5) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14319319 | duplication | SAMN00001694 | Sequencing | Sequence alignment | Heterozygous | 16,419 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14319319 | Submitted genomic | NC_000005.10:g.(39 793696_39793718)_( 39917448_39917457) dup | GRCh38 (hg38) | NC_000005.10 | Chr5 | 39,793,706 (-10, +12) | 39,917,452 (-4, +5) | ||
| nssv14319319 | Remapped | Perfect | NC_000005.9:g.(397 93798_39793820)_(3 9917550_39917559)d up | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 39,793,808 (-10, +12) | 39,917,554 (-4, +5) |