nsv2781906
- 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: 143 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 143 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 117 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 117 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 144 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 144 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 117 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 117 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv2781906 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 13,802,882 | 13,802,882 | - |
| nsv2781906 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 13,802,884 | 13,802,884 | + |
| nsv2781906 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 81,925,247 | 81,925,247 | + |
| nsv2781906 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 81,925,249 | 81,925,249 | - |
| nsv2781906 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 13,955,816 | 13,955,816 | - | ||
| nsv2781906 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 13,955,818 | 13,955,818 | + | ||
| nsv2781906 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 82,319,026 | 82,319,026 | + | ||
| nsv2781906 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 82,319,028 | 82,319,028 | - |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv13660298 | inversion | MGH7 | Sequencing | Split read and paired-end mapping | SCV000320902 | nssv13660297 |
| nssv13660297 | inversion | MGH7 | Sequencing | Split read and paired-end mapping | SCV000320902 | nssv13660298 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13660298 | Remapped | Perfect | NC_000012.12:g.138 02882inv420NC_0000 12.12:g.81925247in v420 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 13,802,882 | 13,802,882 |
| nssv13660297 | Remapped | Perfect | NC_000012.12:g.138 02884inv1046NC_000 012.12:g.81925249i nv1046 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 13,802,884 | 13,802,884 |
| nssv13660298 | Remapped | Perfect | NC_000012.12:g.138 02882inv420NC_0000 12.12:g.81925247in v420 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 81,925,247 | 81,925,247 |
| nssv13660297 | Remapped | Perfect | NC_000012.12:g.138 02884inv1046NC_000 012.12:g.81925249i nv1046 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 81,925,249 | 81,925,249 |
| nssv13660298 | Submitted genomic | [NC_000012.11:g.13 955816inv420];[NC_ 000012.11:g.823190 26inv420] | GRCh37 (hg19) | NC_000012.11 | Chr12 | 13,955,816 | 13,955,816 | ||
| nssv13660297 | Submitted genomic | [NC_000012.11:g.13 955818inv1046];[NC _000012.11:g.82319 028inv1046] | GRCh37 (hg19) | NC_000012.11 | Chr12 | 13,955,818 | 13,955,818 | ||
| nssv13660298 | Submitted genomic | [NC_000012.11:g.13 955816inv420];[NC_ 000012.11:g.823190 26inv420] | GRCh37 (hg19) | NC_000012.11 | Chr12 | 82,319,026 | 82,319,026 | ||
| nssv13660297 | Submitted genomic | [NC_000012.11:g.13 955818inv1046];[NC _000012.11:g.82319 028inv1046] | GRCh37 (hg19) | NC_000012.11 | Chr12 | 82,319,028 | 82,319,028 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Clinical Interpretation | ClinVar ID | Gender | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| nssv13660298 | MGH7 | GRCh37: [NC_000012.11:g.13955816inv420];[NC_000012.11:g.82319026inv420] | inversion | SCV000320902 | Male | nssv13660297 | |
| nssv13660297 | MGH7 | GRCh37: [NC_000012.11:g.13955818inv1046];[NC_000012.11:g.82319028inv1046] | inversion | SCV000320902 | Male | nssv13660298 |