nsv2781898
- 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: 231 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 321 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 551 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 547 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 231 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 321 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 551 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 547 SVs from 47 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781898 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 174,079,140 | 174,079,140 | + |
nsv2781898 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 184,176,792 | 184,176,792 | + |
nsv2781898 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 188,901,617 | 188,901,617 | - |
nsv2781898 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 188,920,643 | 188,920,643 | + |
nsv2781898 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 175,000,291 | 175,000,291 | + | ||
nsv2781898 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 185,097,945 | 185,097,945 | + | ||
nsv2781898 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 189,822,771 | 189,822,771 | - | ||
nsv2781898 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 189,841,797 | 189,841,797 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13660286 | intrachromosomal translocation | DGAP323 | Sequencing | Split read and paired-end mapping | SCV000320894 | nssv13660285 |
nssv13660285 | intrachromosomal translocation | DGAP323 | Sequencing | Split read and paired-end mapping | SCV000320894 | nssv13660286 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv13660286 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 174,079,140 | 174,079,140 | + |
nssv13660285 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 184,176,792 | 184,176,792 | + |
nssv13660285 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 188,901,617 | 188,901,617 | - |
nssv13660286 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 188,920,643 | 188,920,643 | + |
nssv13660286 | Submitted genomic | GRCh37 (hg19) | NC_000004.11 | Chr4 | 175,000,291 | 175,000,291 | + | ||
nssv13660285 | Submitted genomic | GRCh37 (hg19) | NC_000004.11 | Chr4 | 185,097,945 | 185,097,945 | + | ||
nssv13660285 | Submitted genomic | GRCh37 (hg19) | NC_000004.11 | Chr4 | 189,822,771 | 189,822,771 | - | ||
nssv13660286 | Submitted genomic | GRCh37 (hg19) | NC_000004.11 | Chr4 | 189,841,797 | 189,841,797 | + |
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 |
---|---|---|---|---|---|---|
nssv13660286 | DGAP323 | intrachromosomal translocation | SCV000320894 | Female | nssv13660285 | |
nssv13660285 | DGAP323 | intrachromosomal translocation | SCV000320894 | Female | nssv13660286 |