nsv2781900
- Organism: Homo sapiens
- Study:nstd133 (Redin et al. 2016)
- Variant Type:complex chromosomal rearrangement
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:3
- 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: 104 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 104 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 98 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 98 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 140 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 140 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 104 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 104 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 98 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 98 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 140 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 140 SVs from 28 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781900 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 97,322,974 | 97,322,974 | + |
nsv2781900 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 97,322,985 | 97,322,985 | - |
nsv2781900 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 97,500,336 | 97,500,336 | - |
nsv2781900 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 97,500,337 | 97,500,337 | + |
nsv2781900 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 77,426,009 | 77,426,009 | + |
nsv2781900 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 77,426,009 | 77,426,009 | + |
nsv2781900 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 97,770,850 | 97,770,850 | + | ||
nsv2781900 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 97,770,861 | 97,770,861 | - | ||
nsv2781900 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 97,948,212 | 97,948,212 | - | ||
nsv2781900 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 97,948,213 | 97,948,213 | + | ||
nsv2781900 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 80,040,925 | 80,040,925 | + | ||
nsv2781900 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 80,040,925 | 80,040,925 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13660194 | interchromosomal translocation | MGH1 | Sequencing | Split read and paired-end mapping | SCV000320896 | nssv13660203, nssv13659875 |
nssv13659875 | intrachromosomal translocation | MGH1 | Sequencing | Split read and paired-end mapping | SCV000320897 | nssv13660194, nssv13660203 |
nssv13660203 | interchromosomal translocation | MGH1 | Sequencing | Split read and paired-end mapping | SCV000320896 | nssv13659875, nssv13660194 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv13660194 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 97,322,974 | 97,322,974 | + |
nssv13659875 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 97,322,985 | 97,322,985 | - |
nssv13660203 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 97,500,336 | 97,500,336 | - |
nssv13659875 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 97,500,337 | 97,500,337 | + |
nssv13660194 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 77,426,009 | 77,426,009 | + |
nssv13660203 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 77,426,009 | 77,426,009 | + |
nssv13660194 | Submitted genomic | GRCh37 (hg19) | NC_000006.11 | Chr6 | 97,770,850 | 97,770,850 | + | ||
nssv13659875 | Submitted genomic | GRCh37 (hg19) | NC_000006.11 | Chr6 | 97,770,861 | 97,770,861 | - | ||
nssv13660203 | Submitted genomic | GRCh37 (hg19) | NC_000006.11 | Chr6 | 97,948,212 | 97,948,212 | - | ||
nssv13659875 | Submitted genomic | GRCh37 (hg19) | NC_000006.11 | Chr6 | 97,948,213 | 97,948,213 | + | ||
nssv13660194 | Submitted genomic | GRCh37 (hg19) | NC_000009.11 | Chr9 | 80,040,925 | 80,040,925 | + | ||
nssv13660203 | Submitted genomic | GRCh37 (hg19) | NC_000009.11 | Chr9 | 80,040,925 | 80,040,925 | + |
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 |
---|---|---|---|---|---|---|
nssv13660194 | MGH1 | interchromosomal translocation | SCV000320896 | Male | nssv13660203, nssv13659875 | |
nssv13659875 | MGH1 | intrachromosomal translocation | SCV000320897 | Male | nssv13660194, nssv13660203 | |
nssv13660203 | MGH1 | interchromosomal translocation | SCV000320896 | Male | nssv13659875, nssv13660194 |