nsv2781956
- 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: 162 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 458 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 458 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 458 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 458 SVs from 30 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781956 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 74,805,270 | 74,805,270 | + |
nsv2781956 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 74,805,806 | 74,805,806 | + |
nsv2781956 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 50,471,051 | 50,471,051 | + |
nsv2781956 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 50,471,824 | 50,471,824 | + |
nsv2781956 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 74,839,168 | 74,839,168 | + | ||
nsv2781956 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 74,839,704 | 74,839,704 | + | ||
nsv2781956 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 50,909,480 | 50,909,480 | + | ||
nsv2781956 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 50,910,253 | 50,910,253 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13660002 | interchromosomal translocation | ROC64 | Sequencing | Split read and paired-end mapping | SCV000320952 | nssv13660361 |
nssv13660361 | interchromosomal translocation | ROC64 | Sequencing | Split read and paired-end mapping | SCV000320952 | nssv13660002 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv13660002 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 74,805,270 | 74,805,270 | + |
nssv13660361 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 74,805,806 | 74,805,806 | + |
nssv13660361 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 50,471,051 | 50,471,051 | + |
nssv13660002 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 50,471,824 | 50,471,824 | + |
nssv13660002 | Submitted genomic | GRCh37 (hg19) | NC_000016.9 | Chr16 | 74,839,168 | 74,839,168 | + | ||
nssv13660361 | Submitted genomic | GRCh37 (hg19) | NC_000016.9 | Chr16 | 74,839,704 | 74,839,704 | + | ||
nssv13660361 | Submitted genomic | GRCh37 (hg19) | NC_000022.10 | Chr22 | 50,909,480 | 50,909,480 | + | ||
nssv13660002 | Submitted genomic | GRCh37 (hg19) | NC_000022.10 | Chr22 | 50,910,253 | 50,910,253 | + |
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 |
---|---|---|---|---|---|---|
nssv13660002 | ROC64 | interchromosomal translocation | SCV000320952 | Female | nssv13660361 | |
nssv13660361 | ROC64 | interchromosomal translocation | SCV000320952 | Female | nssv13660002 |