nsv3203722
- 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:142,849
- 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: 529 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 529 SVs from 68 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3203722 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 115,776,073 (-11, +11) | 115,918,921 (-11, +11) | ||
| nsv3203722 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 116,533,649 (-11, +11) | 116,676,497 (-11, +11) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14292907 | duplication | SAMN00006466 | Sequencing | Sequence alignment | Heterozygous | 14,137 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14292907 | Submitted genomic | NC_000002.12:g.(11 5776062_115776084) _(115918910_115918 932)dup | GRCh38 (hg38) | NC_000002.12 | Chr2 | 115,776,073 (-11, +11) | 115,918,921 (-11, +11) | ||
| nssv14292907 | Remapped | Perfect | NC_000002.11:g.(11 6533638_116533660) _(116676486_116676 508)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 116,533,649 (-11, +11) | 116,676,497 (-11, +11) |