nsv3530977
- 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:533
- 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: 85 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3530977 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 19,513,108 (-0, +7) | 19,513,640 (-0, +1) | ||
| nsv3530977 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 19,623,917 (-0, +7) | 19,624,449 (-0, +1) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14287272 | deletion | SAMN00001696 | Sequencing | Sequence alignment | Heterozygous | 45,591 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14287272 | Submitted genomic | NC_000019.10:g.(19 513108_19513115)_( 19513640_19513641) del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 19,513,108 (-0, +7) | 19,513,640 (-0, +1) | ||
| nssv14287272 | Remapped | Perfect | NC_000019.9:g.(196 23917_19623924)_(1 9624449_19624450)d el | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 19,623,917 (-0, +7) | 19,624,449 (-0, +1) |