nsv2781970
- 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: 108 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 108 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 111 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 111 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 114 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 114 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 111 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 111 SVs from 27 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781970 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 213,781,426 | 213,781,426 | + |
nsv2781970 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 213,781,437 | 213,781,437 | + |
nsv2781970 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 58,350,993 | 58,350,993 | + |
nsv2781970 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 58,350,998 | 58,350,998 | + |
nsv2781970 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 213,954,769 | 213,954,769 | + | ||
nsv2781970 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 213,954,780 | 213,954,780 | + | ||
nsv2781970 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 59,217,159 | 59,217,159 | + | ||
nsv2781970 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 59,217,164 | 59,217,164 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13660489 | interchromosomal translocation | NIJ18 | Sequencing | Split read and paired-end mapping | SCV000320967 | nssv13660490 |
nssv13660490 | interchromosomal translocation | NIJ18 | Sequencing | Split read and paired-end mapping | SCV000320967 | nssv13660489 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv13660489 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 213,781,426 | 213,781,426 | + |
nssv13660490 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 213,781,437 | 213,781,437 | + |
nssv13660490 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 58,350,993 | 58,350,993 | + |
nssv13660489 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 58,350,998 | 58,350,998 | + |
nssv13660489 | Submitted genomic | GRCh37 (hg19) | NC_000001.10 | Chr1 | 213,954,769 | 213,954,769 | + | ||
nssv13660490 | Submitted genomic | GRCh37 (hg19) | NC_000001.10 | Chr1 | 213,954,780 | 213,954,780 | + | ||
nssv13660490 | Submitted genomic | GRCh37 (hg19) | NC_000004.11 | Chr4 | 59,217,159 | 59,217,159 | + | ||
nssv13660489 | Submitted genomic | GRCh37 (hg19) | NC_000004.11 | Chr4 | 59,217,164 | 59,217,164 | + |
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 |
---|---|---|---|---|---|---|
nssv13660489 | NIJ18 | interchromosomal translocation | SCV000320967 | Male | nssv13660490 | |
nssv13660490 | NIJ18 | interchromosomal translocation | SCV000320967 | Male | nssv13660489 |