nsv3196425
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:copy number variation
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:153,598
- 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: 540 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 540 SVs from 40 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3196425 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 99,625,549 | 99,779,146 | ||
| nsv3196425 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 98,880,547 | 99,034,144 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14269782 | deletion | SAMN00006466 | Optical mapping | Optical mapping | Heterozygous | 14,137 |
| nssv14269783 | deletion | SAMN00006581 | Optical mapping | Optical mapping | Homozygous | 41,185 |
| nssv14269784 | deletion | SAMN00001696 | Optical mapping | Optical mapping | Homozygous | 45,591 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14269782 | Submitted genomic | NC_000023.11:g.(99 625549_?)_(?_99779 146)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 99,625,549 | 99,779,146 | ||
| nssv14269783 | Submitted genomic | NC_000023.11:g.(99 625549_?)_(?_99779 146)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 99,625,549 | 99,779,146 | ||
| nssv14269784 | Submitted genomic | NC_000023.11:g.(99 625549_?)_(?_99779 146)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 99,625,549 | 99,779,146 | ||
| nssv14269782 | Remapped | Perfect | NC_000023.10:g.(98 880547_?)_(?_99034 144)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 98,880,547 | 99,034,144 |
| nssv14269783 | Remapped | Perfect | NC_000023.10:g.(98 880547_?)_(?_99034 144)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 98,880,547 | 99,034,144 |
| nssv14269784 | Remapped | Perfect | NC_000023.10:g.(98 880547_?)_(?_99034 144)del | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 98,880,547 | 99,034,144 |