nsv2781883
- Organism: Homo sapiens
- Study:nstd133 (Redin et al. 2016)
- Variant Type:complex chromosomal rearrangement
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:6
- 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: 164 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 164 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 147 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 147 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 153 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 153 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 164 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 164 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 147 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 147 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 153 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 153 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 23 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv2781883 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 22,479,489 | 22,479,489 | + |
| nsv2781883 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 22,479,489 | 22,479,489 | + |
| nsv2781883 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 28,811,079 | 28,811,079 | + |
| nsv2781883 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 28,811,079 | 28,811,079 | - |
| nsv2781883 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 29,096,550 | 29,096,550 | + |
| nsv2781883 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 29,096,550 | 29,096,550 | + |
| nsv2781883 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 29,620,649 | 29,620,649 | + |
| nsv2781883 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 29,620,649 | 29,620,649 | + |
| nsv2781883 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 59,089,722 | 59,089,722 | + |
| nsv2781883 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 59,089,722 | 59,089,722 | - |
| nsv2781883 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 60,225,035 | 60,225,035 | + |
| nsv2781883 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 60,225,035 | 60,225,035 | + |
| nsv2781883 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 22,632,423 | 22,632,423 | + | ||
| nsv2781883 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 22,632,423 | 22,632,423 | + | ||
| nsv2781883 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 28,964,012 | 28,964,012 | + | ||
| nsv2781883 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 28,964,012 | 28,964,012 | - | ||
| nsv2781883 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 29,249,483 | 29,249,483 | + | ||
| nsv2781883 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 29,249,483 | 29,249,483 | + | ||
| nsv2781883 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 29,773,582 | 29,773,582 | + | ||
| nsv2781883 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 29,773,582 | 29,773,582 | + | ||
| nsv2781883 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 59,483,503 | 59,483,503 | + | ||
| nsv2781883 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 59,483,503 | 59,483,503 | - | ||
| nsv2781883 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 60,618,816 | 60,618,816 | + | ||
| nsv2781883 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 60,618,816 | 60,618,816 | + |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv13659785 | copy number loss | DGAP112 | Sequencing | Split read and paired-end mapping | SCV000320769 | 6 |
| nssv13659792 | intrachromosomal translocation | DGAP112 | Sequencing | Split read and paired-end mapping | SCV000320769 | 6 |
| nssv13659794 | intrachromosomal translocation | DGAP112 | Sequencing | Split read and paired-end mapping | SCV000320769 | 6 |
| nssv13659786 | copy number loss | DGAP112 | Sequencing | Split read and paired-end mapping | SCV000320769 | 6 |
| nssv13659793 | intrachromosomal translocation | DGAP112 | Sequencing | Split read and paired-end mapping | SCV000320769 | 6 |
| nssv13659787 | copy number loss | DGAP112 | Sequencing | Split read and paired-end mapping | SCV000320769 | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv13659785 | Remapped | Perfect | NC_000012.12:g.224 79489delNC_000012. 12:g.28811079del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 22,479,489 | 22,479,489 | |
| nssv13659792 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 22,479,489 | 22,479,489 | + | |
| nssv13659785 | Remapped | Perfect | NC_000012.12:g.224 79489delNC_000012. 12:g.28811079del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 28,811,079 | 28,811,079 | |
| nssv13659794 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 28,811,079 | 28,811,079 | - | |
| nssv13659786 | Remapped | Perfect | NC_000012.12:g.290 96550delNC_000012. 12:g.29620649del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 29,096,550 | 29,096,550 | |
| nssv13659793 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 29,096,550 | 29,096,550 | + | |
| nssv13659786 | Remapped | Perfect | NC_000012.12:g.290 96550delNC_000012. 12:g.29620649del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 29,620,649 | 29,620,649 | |
| nssv13659792 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 29,620,649 | 29,620,649 | + | |
| nssv13659787 | Remapped | Perfect | NC_000012.12:g.590 89722delNC_000012. 12:g.60225035del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 59,089,722 | 59,089,722 | |
| nssv13659793 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 59,089,722 | 59,089,722 | - | |
| nssv13659787 | Remapped | Perfect | NC_000012.12:g.590 89722delNC_000012. 12:g.60225035del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 60,225,035 | 60,225,035 | |
| nssv13659794 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 60,225,035 | 60,225,035 | + | |
| nssv13659785 | Submitted genomic | [NC_000012.11:g.22 632423del];[NC_000 012.11:g.28964012d el] | GRCh37 (hg19) | NC_000012.11 | Chr12 | 22,632,423 | 22,632,423 | |||
| nssv13659792 | Submitted genomic | GRCh37 (hg19) | NC_000012.11 | Chr12 | 22,632,423 | 22,632,423 | + | |||
| nssv13659785 | Submitted genomic | [NC_000012.11:g.22 632423del];[NC_000 012.11:g.28964012d el] | GRCh37 (hg19) | NC_000012.11 | Chr12 | 28,964,012 | 28,964,012 | |||
| nssv13659794 | Submitted genomic | GRCh37 (hg19) | NC_000012.11 | Chr12 | 28,964,012 | 28,964,012 | - | |||
| nssv13659786 | Submitted genomic | [NC_000012.11:g.29 249483del];[NC_000 012.11:g.29773582d el] | GRCh37 (hg19) | NC_000012.11 | Chr12 | 29,249,483 | 29,249,483 | |||
| nssv13659793 | Submitted genomic | GRCh37 (hg19) | NC_000012.11 | Chr12 | 29,249,483 | 29,249,483 | + | |||
| nssv13659786 | Submitted genomic | [NC_000012.11:g.29 249483del];[NC_000 012.11:g.29773582d el] | GRCh37 (hg19) | NC_000012.11 | Chr12 | 29,773,582 | 29,773,582 | |||
| nssv13659792 | Submitted genomic | GRCh37 (hg19) | NC_000012.11 | Chr12 | 29,773,582 | 29,773,582 | + | |||
| nssv13659787 | Submitted genomic | [NC_000012.11:g.59 483503del];[NC_000 012.11:g.60618816d el] | GRCh37 (hg19) | NC_000012.11 | Chr12 | 59,483,503 | 59,483,503 | |||
| nssv13659793 | Submitted genomic | GRCh37 (hg19) | NC_000012.11 | Chr12 | 59,483,503 | 59,483,503 | - | |||
| nssv13659787 | Submitted genomic | [NC_000012.11:g.59 483503del];[NC_000 012.11:g.60618816d el] | GRCh37 (hg19) | NC_000012.11 | Chr12 | 60,618,816 | 60,618,816 | |||
| nssv13659794 | Submitted genomic | GRCh37 (hg19) | NC_000012.11 | Chr12 | 60,618,816 | 60,618,816 | + |
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 |
|---|---|---|---|---|---|---|---|
| nssv13659785 | DGAP112 | GRCh37: [NC_000012.11:g.22632423del];[NC_000012.11:g.28964012del] | copy number loss | SCV000320769 | Female | 6 | |
| nssv13659792 | DGAP112 | intrachromosomal translocation | SCV000320769 | Female | 6 | ||
| nssv13659794 | DGAP112 | intrachromosomal translocation | SCV000320769 | Female | 6 | ||
| nssv13659786 | DGAP112 | GRCh37: [NC_000012.11:g.29249483del];[NC_000012.11:g.29773582del] | copy number loss | SCV000320769 | Female | 6 | |
| nssv13659793 | DGAP112 | intrachromosomal translocation | SCV000320769 | Female | 6 | ||
| nssv13659787 | DGAP112 | GRCh37: [NC_000012.11:g.59483503del];[NC_000012.11:g.60618816del] | copy number loss | SCV000320769 | Female | 6 |