nsv3966021
- Organism: Homo sapiens
- Study:nstd168 (Levy-Sakin et al. 2019)
- Variant Type:copy number variation
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:91,678
- Publication(s):Levy-Sakin 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: 782 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 784 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 184 SVs from 38 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3966021 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 48,012,531 | 48,104,208 | ||
| nsv3966021 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 47,871,927 | 47,963,592 |
| nsv3966021 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070880.2 | ChrX|NW_00 4070880.2 | 251,960 | 343,637 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15211007 | duplication | Optical mapping | Optical mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15211007 | Submitted genomic | NC_000023.11:g.(48 012531_?)_(?_48104 208)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 48,012,531 | 48,104,208 | ||
| nssv15211007 | Remapped | Perfect | NW_004070880.2:g.( 251960_?)_(?_34363 7)dup | GRCh37.p13 | First Pass | NW_004070880.2 | ChrX|NW_00 4070880.2 | 251,960 | 343,637 |
| nssv15211007 | Remapped | Good | NC_000023.10:g.(47 871927_?)_(?_47963 592)dup | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 47,871,927 | 47,963,592 |