nsv2781868
- Organism: Homo sapiens
- Study:nstd133 (Redin et al. 2016)
- Variant Type:complex chromosomal rearrangement
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:5
- 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: 205 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 205 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 164 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 164 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 218 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 218 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 167 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 103 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 103 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 205 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 205 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 164 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 164 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 216 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 216 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 167 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 103 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 103 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781868 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 119,198,438 | 119,198,438 | + |
nsv2781868 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 119,198,536 | 119,198,536 | + |
nsv2781868 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 102,842,491 | 102,842,491 | + |
nsv2781868 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 102,842,491 | 102,842,491 | + |
nsv2781868 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 48,925,282 | 48,925,282 | + |
nsv2781868 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 48,925,288 | 48,925,288 | + |
nsv2781868 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 84,762,420 | 84,762,420 | + |
nsv2781868 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 84,763,363 | 84,763,363 | + |
nsv2781868 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 55,052,894 | 55,052,894 | + |
nsv2781868 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 55,052,894 | 55,052,894 | + |
nsv2781868 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 118,838,492 | 118,838,492 | + | ||
nsv2781868 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 118,838,590 | 118,838,590 | + | ||
nsv2781868 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 105,604,773 | 105,604,773 | + | ||
nsv2781868 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 105,604,773 | 105,604,773 | + | ||
nsv2781868 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 50,133,327 | 50,133,327 | + | ||
nsv2781868 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 50,133,333 | 50,133,333 | + | ||
nsv2781868 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 86,522,176 | 86,522,176 | + | ||
nsv2781868 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 86,523,119 | 86,523,119 | + | ||
nsv2781868 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 55,086,806 | 55,086,806 | + | ||
nsv2781868 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 55,086,806 | 55,086,806 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13660216 | interchromosomal translocation | DGAP277 | Sequencing | Split read and paired-end mapping | SCV000320870 | 5 |
nssv13660215 | interchromosomal translocation | DGAP277 | Sequencing | Split read and paired-end mapping | SCV000320870 | 5 |
nssv13660217 | interchromosomal translocation | DGAP277 | Sequencing | Split read and paired-end mapping | SCV000320870 | 5 |
nssv13660219 | interchromosomal translocation | DGAP277 | Sequencing | Split read and paired-end mapping | SCV000320870 | 5 |
nssv13660218 | intrachromosomal translocation | DGAP277 | Sequencing | Split read and paired-end mapping | SCV000320870 | 5 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv13660216 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 119,198,438 | 119,198,438 | + |
nssv13660215 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 119,198,536 | 119,198,536 | + |
nssv13660217 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 102,842,491 | 102,842,491 | + |
nssv13660219 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 102,842,491 | 102,842,491 | + |
nssv13660215 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 48,925,282 | 48,925,282 | + |
nssv13660218 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 48,925,288 | 48,925,288 | + |
nssv13660218 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 84,762,420 | 84,762,420 | + |
nssv13660216 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 84,763,363 | 84,763,363 | + |
nssv13660217 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 55,052,894 | 55,052,894 | + |
nssv13660219 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 55,052,894 | 55,052,894 | + |
nssv13660216 | Submitted genomic | GRCh37 (hg19) | NC_000007.13 | Chr7 | 118,838,492 | 118,838,492 | + | ||
nssv13660215 | Submitted genomic | GRCh37 (hg19) | NC_000007.13 | Chr7 | 118,838,590 | 118,838,590 | + | ||
nssv13660217 | Submitted genomic | GRCh37 (hg19) | NC_000009.11 | Chr9 | 105,604,773 | 105,604,773 | + | ||
nssv13660219 | Submitted genomic | GRCh37 (hg19) | NC_000009.11 | Chr9 | 105,604,773 | 105,604,773 | + | ||
nssv13660215 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 50,133,327 | 50,133,327 | + | ||
nssv13660218 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 50,133,333 | 50,133,333 | + | ||
nssv13660218 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 86,522,176 | 86,522,176 | + | ||
nssv13660216 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 86,523,119 | 86,523,119 | + | ||
nssv13660217 | Submitted genomic | GRCh37 (hg19) | NC_000016.9 | Chr16 | 55,086,806 | 55,086,806 | + | ||
nssv13660219 | Submitted genomic | GRCh37 (hg19) | NC_000016.9 | Chr16 | 55,086,806 | 55,086,806 | + |
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 |
---|---|---|---|---|---|---|
nssv13660216 | DGAP277 | interchromosomal translocation | SCV000320870 | Male | 5 | |
nssv13660215 | DGAP277 | interchromosomal translocation | SCV000320870 | Male | 5 | |
nssv13660217 | DGAP277 | interchromosomal translocation | SCV000320870 | Male | 5 | |
nssv13660219 | DGAP277 | interchromosomal translocation | SCV000320870 | Male | 5 | |
nssv13660218 | DGAP277 | intrachromosomal translocation | SCV000320870 | Male | 5 |