nsv2782002
- Organism: Homo sapiens
- Study:nstd133 (Redin et al. 2016)
- Variant Type:complex chromosomal rearrangement
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1
- Publication(s):Redin et al. 2016
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: 85 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 116 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 116 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 116 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 116 SVs from 17 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2782002 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 54,915,485 | 54,915,485 | - |
nsv2782002 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 54,915,492 | 54,915,492 | + |
nsv2782002 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 70,251,774 | 70,251,774 | + |
nsv2782002 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 70,251,778 | 70,251,778 | - |
nsv2782002 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 54,949,512 | 54,949,512 | - | ||
nsv2782002 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 54,949,519 | 54,949,519 | + | ||
nsv2782002 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 68,247,915 | 68,247,915 | + | ||
nsv2782002 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 68,247,919 | 68,247,919 | - |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13659713 | interchromosomal translocation | DGAP003 | Sequencing | Split read mapping | SCV000320747 | nssv13659712 |
nssv13659712 | interchromosomal translocation | DGAP003 | Sequencing | Split read mapping | SCV000320747 | nssv13659713 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv13659713 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 54,915,485 | 54,915,485 | - |
nssv13659712 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 54,915,492 | 54,915,492 | + |
nssv13659713 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 70,251,774 | 70,251,774 | + |
nssv13659712 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 70,251,778 | 70,251,778 | - |
nssv13659713 | Submitted genomic | GRCh37 (hg19) | NC_000003.11 | Chr3 | 54,949,512 | 54,949,512 | - | ||
nssv13659712 | Submitted genomic | GRCh37 (hg19) | NC_000003.11 | Chr3 | 54,949,519 | 54,949,519 | + | ||
nssv13659713 | Submitted genomic | GRCh37 (hg19) | NC_000017.10 | Chr17 | 68,247,915 | 68,247,915 | + | ||
nssv13659712 | Submitted genomic | GRCh37 (hg19) | NC_000017.10 | Chr17 | 68,247,919 | 68,247,919 | - |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | Sample ID | Type | Clinical Interpretation | ClinVar ID | Gender | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13659713 | DGAP003 | interchromosomal translocation | SCV000320747 | Male | nssv13659712 | |
nssv13659712 | DGAP003 | interchromosomal translocation | SCV000320747 | Male | nssv13659713 |