nsv2781985
- 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: 190 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 190 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 190 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 190 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 14 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781985 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 2,530,478 | 2,530,478 | - |
nsv2781985 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 2,530,487 | 2,530,487 | + |
nsv2781985 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 71,395,079 | 71,395,079 | + |
nsv2781985 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 71,399,564 | 71,399,564 | - |
nsv2781985 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 2,572,670 | 2,572,670 | - | ||
nsv2781985 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 2,572,679 | 2,572,679 | + | ||
nsv2781985 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 69,391,220 | 69,391,220 | + | ||
nsv2781985 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 69,395,705 | 69,395,705 | - |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13660521 | interchromosomal translocation | UTR8 | Sequencing | Split read and paired-end mapping | SCV000320978 | nssv13660497 |
nssv13660497 | interchromosomal translocation | UTR8 | Sequencing | Split read and paired-end mapping | SCV000320978 | nssv13660521 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv13660521 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 2,530,478 | 2,530,478 | - |
nssv13660497 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 2,530,487 | 2,530,487 | + |
nssv13660521 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 71,395,079 | 71,395,079 | + |
nssv13660497 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 71,399,564 | 71,399,564 | - |
nssv13660521 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 2,572,670 | 2,572,670 | - | ||
nssv13660497 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 2,572,679 | 2,572,679 | + | ||
nssv13660521 | Submitted genomic | GRCh37 (hg19) | NC_000017.10 | Chr17 | 69,391,220 | 69,391,220 | + | ||
nssv13660497 | Submitted genomic | GRCh37 (hg19) | NC_000017.10 | Chr17 | 69,395,705 | 69,395,705 | - |
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 |
---|---|---|---|---|---|---|
nssv13660521 | UTR8 | interchromosomal translocation | SCV000320978 | Male | nssv13660497 | |
nssv13660497 | UTR8 | interchromosomal translocation | SCV000320978 | Male | nssv13660521 |