nsv3209727
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:copy number variation
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:162,596
- 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: 553 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 553 SVs from 52 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3209727 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 65,326,535 | 65,489,130 | ||
| nsv3209727 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 66,192,253 | 66,354,848 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14271923 | deletion | SAMN00006580 | Optical mapping | Optical mapping | Homozygous | 14,212 |
| nssv14271924 | deletion | SAMN00001694 | Optical mapping | Optical mapping | Heterozygous | 16,419 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14271923 | Submitted genomic | NC_000004.12:g.(65 326535_?)_(?_65489 130)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 65,326,535 | 65,489,130 | ||
| nssv14271924 | Submitted genomic | NC_000004.12:g.(65 326535_?)_(?_65489 130)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 65,326,535 | 65,489,130 | ||
| nssv14271923 | Remapped | Perfect | NC_000004.11:g.(66 192253_?)_(?_66354 848)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 66,192,253 | 66,354,848 |
| nssv14271924 | Remapped | Perfect | NC_000004.11:g.(66 192253_?)_(?_66354 848)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 66,192,253 | 66,354,848 |