nsv2781821
- 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: 298 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 298 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 753 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 753 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 752 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 752 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 383 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 383 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 753 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 753 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 752 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 752 SVs from 50 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781821 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 60,831,959 | 60,831,959 | - |
nsv2781821 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 60,831,977 | 60,831,977 | + |
nsv2781821 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 25,170,624 | 25,170,624 | + |
nsv2781821 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 25,170,624 | 25,170,624 | - |
nsv2781821 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 25,250,843 | 25,250,843 | + |
nsv2781821 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 25,250,843 | 25,250,843 | + |
nsv2781821 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 41,418,231 | 41,418,231 | - | ||
nsv2781821 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 41,418,249 | 41,418,249 | + | ||
nsv2781821 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 25,415,771 | 25,415,771 | + | ||
nsv2781821 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 25,415,771 | 25,415,771 | - | ||
nsv2781821 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 25,495,990 | 25,495,990 | + | ||
nsv2781821 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 25,495,990 | 25,495,990 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13660102 | interchromosomal translocation | DGAP232 | Sequencing | Split read and paired-end mapping | SCV000320841 | nssv13660095, nssv13660103 |
nssv13660095 | interchromosomal translocation | DGAP232 | Sequencing | Split read and paired-end mapping | SCV000320841 | nssv13660102, nssv13660103 |
nssv13660103 | copy number gain | DGAP232 | Sequencing | Split read and paired-end mapping | SCV000320841 | nssv13660095, nssv13660102 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|---|
nssv13660102 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 60,831,959 | 60,831,959 | - | |
nssv13660095 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 60,831,977 | 60,831,977 | + | |
nssv13660095 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 25,170,624 | 25,170,624 | - | |
nssv13660103 | Remapped | Perfect | NC_000015.10:g.251 70624dupNC_000015. 10:g.25250843dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 25,170,624 | 25,170,624 | |
nssv13660102 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 25,250,843 | 25,250,843 | + | |
nssv13660103 | Remapped | Perfect | NC_000015.10:g.251 70624dupNC_000015. 10:g.25250843dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 25,250,843 | 25,250,843 | |
nssv13660102 | Submitted genomic | GRCh37 (hg19) | NC_000009.11 | Chr9 | 41,418,231 | 41,418,231 | - | |||
nssv13660095 | Submitted genomic | GRCh37 (hg19) | NC_000009.11 | Chr9 | 41,418,249 | 41,418,249 | + | |||
nssv13660095 | Submitted genomic | GRCh37 (hg19) | NC_000015.9 | Chr15 | 25,415,771 | 25,415,771 | - | |||
nssv13660103 | Submitted genomic | [NC_000015.9:g.254 15771dup];[NC_0000 15.9:g.25495990dup ] | GRCh37 (hg19) | NC_000015.9 | Chr15 | 25,415,771 | 25,415,771 | |||
nssv13660102 | Submitted genomic | GRCh37 (hg19) | NC_000015.9 | Chr15 | 25,495,990 | 25,495,990 | + | |||
nssv13660103 | Submitted genomic | [NC_000015.9:g.254 15771dup];[NC_0000 15.9:g.25495990dup ] | GRCh37 (hg19) | NC_000015.9 | Chr15 | 25,495,990 | 25,495,990 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | Sample ID | HGVS | Type | Clinical Interpretation | ClinVar ID | Gender | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|---|
nssv13660102 | DGAP232 | interchromosomal translocation | SCV000320841 | Male | nssv13660095, nssv13660103 | ||
nssv13660095 | DGAP232 | interchromosomal translocation | SCV000320841 | Male | nssv13660102, nssv13660103 | ||
nssv13660103 | DGAP232 | GRCh37: [NC_000015.9:g.25415771dup];[NC_000015.9:g.25495990dup] | copy number gain | SCV000320841 | Male | nssv13660095, nssv13660102 |