nsv3971586
- 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: 173 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 154 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 163 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 41 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 13 SVs from 12 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv3971586 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 121,151,786 | 121,151,786 | + | ||
nsv3971586 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 149,824,971 | 149,824,971 | + | ||
nsv3971586 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 120,871,535 | 120,871,535 | + |
nsv3971586 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 149,796,524 | 149,796,524 | + |
nsv3971586 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871056.3 | Chr1|NW_00 3871056.3 | 1,223,360 | 1,223,360 | + |
nsv3971586 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 6,640,384 | 6,640,384 | + |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15219324 | intrachromosomal translocation | Optical mapping | Optical mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv15219324 | Submitted genomic | GRCh38 (hg38) | NC_000001.11 | Chr1 | 121,151,786 | 121,151,786 | + | ||
nssv15219324 | Submitted genomic | GRCh38 (hg38) | NC_000001.11 | Chr1 | 149,824,971 | 149,824,971 | + | ||
nssv15219324 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_003871056.3 | Chr1|NW_00 3871056.3 | 1,223,360 | 1,223,360 | + |
nssv15219324 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 6,640,384 | 6,640,384 | + |
nssv15219324 | Remapped | Perfect | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 120,871,535 | 120,871,535 | + |
nssv15219324 | Remapped | Perfect | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 149,796,524 | 149,796,524 | + |