nsv3971564
- Organism: Homo sapiens
- Study:nstd168 (Levy-Sakin et al. 2019)
- Variant Type:translocation
- Method Type:Optical mapping
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 80 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 295 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 80 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 23 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|---|
nsv3971564 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 45,600,544 | 45,600,544 | + | ||
nsv3971564 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 219,062 | 219,062 | + | ||
nsv3971564 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 45,622,094 | 45,622,094 | + |
nsv3971564 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070872.2 | Chr17|NW_0 04070872.2 | 159,060 | 159,060 | + |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15220104 | interchromosomal translocation | Optical mapping | Optical mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv15220104 | Submitted genomic | GRCh38 (hg38) | NC_000011.10 | Chr11 | 45,600,544 | 45,600,544 | + | ||
nssv15220104 | Submitted genomic | GRCh38 (hg38) | NC_000017.11 | Chr17 | 219,062 | 219,062 | + | ||
nssv15220104 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 45,622,094 | 45,622,094 | + |
nssv15220104 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_004070872.2 | Chr17|NW_0 04070872.2 | 159,060 | 159,060 | + |