nsv2781881
- Organism: Homo sapiens
- Study:nstd133 (Redin et al. 2016)
- Variant Type:complex chromosomal rearrangement
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:5
- 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: 105 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 103 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 175 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 222 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 244 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 220 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 205 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 188 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 195 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 194 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 103 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 175 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 222 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 244 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 220 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 205 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 188 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 195 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 194 SVs from 36 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv2781881 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 69,361,132 | 69,361,132 | + |
| nsv2781881 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 69,361,288 | 69,361,288 | + |
| nsv2781881 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 1,893,827 | 1,893,827 | + |
| nsv2781881 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 1,894,613 | 1,894,613 | - |
| nsv2781881 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 1,915,438 | 1,915,438 | - |
| nsv2781881 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 1,915,763 | 1,915,763 | + |
| nsv2781881 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 1,939,497 | 1,939,497 | + |
| nsv2781881 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 1,940,131 | 1,940,131 | + |
| nsv2781881 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 1,963,665 | 1,963,665 | + |
| nsv2781881 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 1,963,789 | 1,963,789 | + |
| nsv2781881 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 69,588,264 | 69,588,264 | + | ||
| nsv2781881 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 69,588,420 | 69,588,420 | + | ||
| nsv2781881 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 1,915,057 | 1,915,057 | + | ||
| nsv2781881 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 1,915,843 | 1,915,843 | - | ||
| nsv2781881 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 1,936,668 | 1,936,668 | - | ||
| nsv2781881 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 1,936,993 | 1,936,993 | + | ||
| nsv2781881 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 1,960,727 | 1,960,727 | + | ||
| nsv2781881 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 1,961,361 | 1,961,361 | + | ||
| nsv2781881 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 1,984,895 | 1,984,895 | + | ||
| nsv2781881 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 1,985,019 | 1,985,019 | + |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv13659864 | interchromosomal translocation | DGAP295 | Sequencing | Split read and paired-end mapping | SCV000320882 | 5 |
| nssv13659863 | interchromosomal translocation | DGAP295 | Sequencing | Split read and paired-end mapping | SCV000320882 | 5 |
| nssv13660254 | intrachromosomal translocation | DGAP295 | Sequencing | Split read and paired-end mapping | SCV000320882 | 5 |
| nssv13660161 | intrachromosomal translocation | DGAP295 | Sequencing | Split read and paired-end mapping | SCV000320882 | 5 |
| nssv13660160 | intrachromosomal translocation | DGAP295 | Sequencing | Split read and paired-end mapping | SCV000320882 | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv13659864 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 69,361,132 | 69,361,132 | + |
| nssv13659863 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 69,361,288 | 69,361,288 | + |
| nssv13660254 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,893,827 | 1,893,827 | + |
| nssv13660161 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,894,613 | 1,894,613 | - |
| nssv13660160 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,915,438 | 1,915,438 | - |
| nssv13660254 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,915,763 | 1,915,763 | + |
| nssv13660160 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,939,497 | 1,939,497 | + |
| nssv13660161 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,940,131 | 1,940,131 | + |
| nssv13659863 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,963,665 | 1,963,665 | + |
| nssv13659864 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,963,789 | 1,963,789 | + |
| nssv13659864 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 69,588,264 | 69,588,264 | + | ||
| nssv13659863 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 69,588,420 | 69,588,420 | + | ||
| nssv13660254 | Submitted genomic | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,915,057 | 1,915,057 | + | ||
| nssv13660161 | Submitted genomic | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,915,843 | 1,915,843 | - | ||
| nssv13660160 | Submitted genomic | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,936,668 | 1,936,668 | - | ||
| nssv13660254 | Submitted genomic | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,936,993 | 1,936,993 | + | ||
| nssv13660160 | Submitted genomic | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,960,727 | 1,960,727 | + | ||
| nssv13660161 | Submitted genomic | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,961,361 | 1,961,361 | + | ||
| nssv13659863 | Submitted genomic | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,984,895 | 1,984,895 | + | ||
| nssv13659864 | Submitted genomic | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,985,019 | 1,985,019 | + |
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 |
|---|---|---|---|---|---|---|
| nssv13659864 | DGAP295 | interchromosomal translocation | SCV000320882 | Female | 5 | |
| nssv13659863 | DGAP295 | interchromosomal translocation | SCV000320882 | Female | 5 | |
| nssv13660254 | DGAP295 | intrachromosomal translocation | SCV000320882 | Female | 5 | |
| nssv13660161 | DGAP295 | intrachromosomal translocation | SCV000320882 | Female | 5 | |
| nssv13660160 | DGAP295 | intrachromosomal translocation | SCV000320882 | Female | 5 |