nsv3971558
- 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: 90 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 175 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 29 SVs from 15 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv3971558 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 8,759,253 | 8,759,253 | + | ||
nsv3971558 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 11,914,506 | 11,914,506 | + | ||
nsv3971558 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 142,688,683 | 142,688,683 | + |
nsv3971558 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 9,648,086 | 9,648,086 | + |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15207668 | interchromosomal translocation | Optical mapping | Optical mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv15207668 | Submitted genomic | GRCh38 (hg38) | NC_000021.9 | Chr21 | 8,759,253 | 8,759,253 | + | ||
nssv15207668 | Submitted genomic | GRCh38 (hg38) | NC_000022.11 | Chr22 | 11,914,506 | 11,914,506 | + | ||
nssv15207668 | Remapped | Perfect | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 142,688,683 | 142,688,683 | + |
nssv15207668 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 9,648,086 | 9,648,086 | + |