nsv2781946
- 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: 79 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 104 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 79 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 104 SVs from 22 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781946 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 74,128,795 | 74,128,795 | + |
nsv2781946 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 74,130,420 | 74,130,420 | + |
nsv2781946 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 57,407,587 | 57,407,587 | - |
nsv2781946 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 57,407,690 | 57,407,690 | + |
nsv2781946 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 57,407,690 | 57,407,690 | - |
nsv2781946 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 57,409,272 | 57,409,272 | + |
nsv2781946 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 73,839,840 | 73,839,840 | + | ||
nsv2781946 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 73,841,465 | 73,841,465 | + | ||
nsv2781946 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 55,982,643 | 55,982,643 | - | ||
nsv2781946 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 55,982,746 | 55,982,746 | + | ||
nsv2781946 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 55,982,746 | 55,982,746 | - | ||
nsv2781946 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 55,984,328 | 55,984,328 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13660403 | interchromosomal translocation | ROC48 | Sequencing | Split read and paired-end mapping | SCV000320942 | nssv13660404, nssv13660405 |
nssv13660405 | interchromosomal translocation | ROC48 | Sequencing | Split read and paired-end mapping | SCV000320942 | nssv13660403, nssv13660404 |
nssv13660404 | intrachromosomal translocation | ROC48 | Sequencing | Split read and paired-end mapping | SCV000320942 | nssv13660403, nssv13660405 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv13660403 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 74,128,795 | 74,128,795 | + |
nssv13660405 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 74,130,420 | 74,130,420 | + |
nssv13660404 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 57,407,587 | 57,407,587 | - |
nssv13660403 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 57,407,690 | 57,407,690 | - |
nssv13660404 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 57,407,690 | 57,407,690 | + |
nssv13660405 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 57,409,272 | 57,409,272 | + |
nssv13660403 | Submitted genomic | GRCh37 (hg19) | NC_000011.9 | Chr11 | 73,839,840 | 73,839,840 | + | ||
nssv13660405 | Submitted genomic | GRCh37 (hg19) | NC_000011.9 | Chr11 | 73,841,465 | 73,841,465 | + | ||
nssv13660404 | Submitted genomic | GRCh37 (hg19) | NC_000020.10 | Chr20 | 55,982,643 | 55,982,643 | - | ||
nssv13660403 | Submitted genomic | GRCh37 (hg19) | NC_000020.10 | Chr20 | 55,982,746 | 55,982,746 | - | ||
nssv13660404 | Submitted genomic | GRCh37 (hg19) | NC_000020.10 | Chr20 | 55,982,746 | 55,982,746 | + | ||
nssv13660405 | Submitted genomic | GRCh37 (hg19) | NC_000020.10 | Chr20 | 55,984,328 | 55,984,328 | + |
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 |
---|---|---|---|---|---|---|
nssv13660403 | ROC48 | interchromosomal translocation | SCV000320942 | Male | nssv13660404, nssv13660405 | |
nssv13660405 | ROC48 | interchromosomal translocation | SCV000320942 | Male | nssv13660403, nssv13660404 | |
nssv13660404 | ROC48 | intrachromosomal translocation | SCV000320942 | Male | nssv13660403, nssv13660405 |