nsv2781793
- Organism: Homo sapiens
- Study:nstd133 (Redin et al. 2016)
- Variant Type:complex chromosomal rearrangement
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:3
- 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: 216 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 216 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 222 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 222 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 216 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 216 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 222 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 222 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 31 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781793 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 185,168,383 | 185,168,383 | + |
nsv2781793 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 185,168,415 | 185,168,415 | + |
nsv2781793 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 185,174,384 | 185,174,384 | - |
nsv2781793 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 185,174,733 | 185,174,733 | - |
nsv2781793 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 87,954,511 | 87,954,511 | + |
nsv2781793 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 87,954,557 | 87,954,557 | + |
nsv2781793 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 186,033,110 | 186,033,110 | + | ||
nsv2781793 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 186,033,142 | 186,033,142 | + | ||
nsv2781793 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 186,039,111 | 186,039,111 | - | ||
nsv2781793 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 186,039,460 | 186,039,460 | - | ||
nsv2781793 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 87,665,403 | 87,665,403 | + | ||
nsv2781793 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 87,665,449 | 87,665,449 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13660004 | interchromosomal translocation | DGAP180 | Sequencing | Split read and paired-end mapping | SCV000320813 | nssv13660005, nssv13660006 |
nssv13660006 | intrachromosomal translocation | DGAP180 | Sequencing | Split read and paired-end mapping | SCV000320813 | nssv13660004, nssv13660005 |
nssv13660005 | interchromosomal translocation | DGAP180 | Sequencing | Split read and paired-end mapping | SCV000320813 | nssv13660004, nssv13660006 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv13660004 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 185,168,383 | 185,168,383 | + |
nssv13660006 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 185,168,415 | 185,168,415 | + |
nssv13660006 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 185,174,384 | 185,174,384 | - |
nssv13660005 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 185,174,733 | 185,174,733 | - |
nssv13660004 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 87,954,511 | 87,954,511 | + |
nssv13660005 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 87,954,557 | 87,954,557 | + |
nssv13660004 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 186,033,110 | 186,033,110 | + | ||
nssv13660006 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 186,033,142 | 186,033,142 | + | ||
nssv13660006 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 186,039,111 | 186,039,111 | - | ||
nssv13660005 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 186,039,460 | 186,039,460 | - | ||
nssv13660004 | Submitted genomic | GRCh37 (hg19) | NC_000011.9 | Chr11 | 87,665,403 | 87,665,403 | + | ||
nssv13660005 | Submitted genomic | GRCh37 (hg19) | NC_000011.9 | Chr11 | 87,665,449 | 87,665,449 | + |
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 |
---|---|---|---|---|---|---|
nssv13660004 | DGAP180 | interchromosomal translocation | SCV000320813 | Male | nssv13660005, nssv13660006 | |
nssv13660006 | DGAP180 | intrachromosomal translocation | SCV000320813 | Male | nssv13660004, nssv13660005 | |
nssv13660005 | DGAP180 | interchromosomal translocation | SCV000320813 | Male | nssv13660004, nssv13660006 |