nsv2781760
- 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: 412 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 412 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 577 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 578 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 847 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 850 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 412 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 412 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 563 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 564 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 848 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 851 SVs from 29 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781760 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 136,218,170 | 136,218,170 | + |
nsv2781760 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 136,218,259 | 136,218,259 | - |
nsv2781760 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 155,159,917 | 155,159,917 | - |
nsv2781760 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 155,161,938 | 155,161,938 | + |
nsv2781760 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 694,460 | 694,460 | + |
nsv2781760 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 737,632 | 737,632 | + |
nsv2781760 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 135,300,329 | 135,300,329 | + | ||
nsv2781760 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 135,300,418 | 135,300,418 | - | ||
nsv2781760 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 154,388,192 | 154,388,192 | - | ||
nsv2781760 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 154,390,213 | 154,390,213 | + | ||
nsv2781760 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 655,195 | 655,195 | + | ||
nsv2781760 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 698,367 | 698,367 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13659854 | intrachromosomal translocation | DGAP130 | Sequencing | Split read and paired-end mapping | SCV000320778 | nssv13659840, nssv13659855 |
nssv13659855 | intrachromosomal translocation | DGAP130 | Sequencing | Split read and paired-end mapping | SCV000320778 | nssv13659840, nssv13659854 |
nssv13659840 | intrachromosomal translocation | DGAP130 | Sequencing | Split read and paired-end mapping | SCV000320778 | nssv13659854, nssv13659855 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv13659854 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 694,460 | 694,460 | + |
nssv13659855 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 737,632 | 737,632 | + |
nssv13659854 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 136,218,170 | 136,218,170 | + |
nssv13659840 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 136,218,259 | 136,218,259 | - |
nssv13659855 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 155,159,917 | 155,159,917 | - |
nssv13659840 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 155,161,938 | 155,161,938 | + |
nssv13659854 | Submitted genomic | GRCh37 (hg19) | NC_000023.10 | ChrX | 655,195 | 655,195 | + | ||
nssv13659855 | Submitted genomic | GRCh37 (hg19) | NC_000023.10 | ChrX | 698,367 | 698,367 | + | ||
nssv13659854 | Submitted genomic | GRCh37 (hg19) | NC_000023.10 | ChrX | 135,300,329 | 135,300,329 | + | ||
nssv13659840 | Submitted genomic | GRCh37 (hg19) | NC_000023.10 | ChrX | 135,300,418 | 135,300,418 | - | ||
nssv13659855 | Submitted genomic | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,388,192 | 154,388,192 | - | ||
nssv13659840 | Submitted genomic | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,390,213 | 154,390,213 | + |
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 |
---|---|---|---|---|---|---|
nssv13659854 | DGAP130 | intrachromosomal translocation | SCV000320778 | Male | nssv13659840, nssv13659855 | |
nssv13659855 | DGAP130 | intrachromosomal translocation | SCV000320778 | Male | nssv13659840, nssv13659854 | |
nssv13659840 | DGAP130 | intrachromosomal translocation | SCV000320778 | Male | nssv13659854, nssv13659855 |