nsv2781977
- 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: 167 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 164 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 124 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 124 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 167 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 164 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 124 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 124 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781977 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 44,373,713 | 44,373,713 | - |
nsv2781977 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 44,374,328 | 44,374,328 | + |
nsv2781977 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 110,832,775 | 110,832,775 | + |
nsv2781977 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 110,832,999 | 110,832,999 | - |
nsv2781977 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 44,600,852 | 44,600,852 | - | ||
nsv2781977 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 44,601,467 | 44,601,467 | + | ||
nsv2781977 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 111,753,931 | 111,753,931 | + | ||
nsv2781977 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 111,754,155 | 111,754,155 | - |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13660507 | interchromosomal translocation | NIJ20 | Sequencing | Split read and paired-end mapping | SCV000320969 | nssv13660506 |
nssv13660506 | interchromosomal translocation | NIJ20 | Sequencing | Split read and paired-end mapping | SCV000320969 | nssv13660507 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv13660507 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 44,373,713 | 44,373,713 | - |
nssv13660506 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 44,374,328 | 44,374,328 | + |
nssv13660507 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 110,832,775 | 110,832,775 | + |
nssv13660506 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 110,832,999 | 110,832,999 | - |
nssv13660507 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 44,600,852 | 44,600,852 | - | ||
nssv13660506 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 44,601,467 | 44,601,467 | + | ||
nssv13660507 | Submitted genomic | GRCh37 (hg19) | NC_000004.11 | Chr4 | 111,753,931 | 111,753,931 | + | ||
nssv13660506 | Submitted genomic | GRCh37 (hg19) | NC_000004.11 | Chr4 | 111,754,155 | 111,754,155 | - |
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 |
---|---|---|---|---|---|---|
nssv13660507 | NIJ20 | interchromosomal translocation | SCV000320969 | Male | nssv13660506 | |
nssv13660506 | NIJ20 | interchromosomal translocation | SCV000320969 | Male | nssv13660507 |