nsv2781852
- 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: 112 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 124 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 124 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 186 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 186 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 86 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 86 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 118 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 118 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 94 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 94 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 124 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 124 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 186 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 186 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 86 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 86 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 118 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 118 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 94 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 94 SVs from 19 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781852 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 149,614,520 | 149,614,520 | + |
nsv2781852 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 149,614,520 | 149,614,520 | + |
nsv2781852 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 154,736,186 | 154,736,186 | + |
nsv2781852 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 154,736,187 | 154,736,187 | - |
nsv2781852 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 12,334,669 | 12,334,669 | + |
nsv2781852 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 12,334,670 | 12,334,670 | - |
nsv2781852 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 101,035,116 | 101,035,116 | + |
nsv2781852 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 101,035,116 | 101,035,116 | + |
nsv2781852 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 11,898,758 | 11,898,758 | + |
nsv2781852 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 11,898,760 | 11,898,760 | + |
nsv2781852 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 28,534,812 | 28,534,812 | + |
nsv2781852 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 28,534,813 | 28,534,813 | + |
nsv2781852 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 149,332,307 | 149,332,307 | + | ||
nsv2781852 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 149,332,307 | 149,332,307 | + | ||
nsv2781852 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 154,453,975 | 154,453,975 | + | ||
nsv2781852 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 154,453,976 | 154,453,976 | - | ||
nsv2781852 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 12,374,295 | 12,374,295 | + | ||
nsv2781852 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 12,374,296 | 12,374,296 | - | ||
nsv2781852 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 102,794,873 | 102,794,873 | + | ||
nsv2781852 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 102,794,873 | 102,794,873 | + | ||
nsv2781852 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 11,940,757 | 11,940,757 | + | ||
nsv2781852 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 11,940,759 | 11,940,759 | + | ||
nsv2781852 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 28,823,741 | 28,823,741 | + | ||
nsv2781852 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 28,823,742 | 28,823,742 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13659745 | interchromosomal translocation | DGAP096 | Sequencing | Split read and paired-end mapping | SCV000320760 | 6 |
nssv13659750 | copy number loss | DGAP096 | Sequencing | Split read and paired-end mapping | SCV000320760 | 6 |
nssv13659746 | interchromosomal translocation | DGAP096 | Sequencing | Split read and paired-end mapping | SCV000320760 | 6 |
nssv13659748 | intrachromosomal translocation | DGAP096 | Sequencing | Split read and paired-end mapping | SCV000320760 | 6 |
nssv13659747 | intrachromosomal translocation | DGAP096 | Sequencing | Split read and paired-end mapping | SCV000320760 | 6 |
nssv13659749 | intrachromosomal translocation | DGAP096 | Sequencing | Split read and paired-end mapping | SCV000320760 | 6 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|---|
nssv13659745 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 149,614,520 | 149,614,520 | + | |
nssv13659750 | Remapped | Perfect | NC_000003.12:g.149 614520delNC_000003 .12:g.154736186del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 149,614,520 | 149,614,520 | |
nssv13659750 | Remapped | Perfect | NC_000003.12:g.149 614520delNC_000003 .12:g.154736186del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 154,736,186 | 154,736,186 | |
nssv13659746 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 154,736,187 | 154,736,187 | - | |
nssv13659746 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 12,334,669 | 12,334,669 | + | |
nssv13659745 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 12,334,670 | 12,334,670 | - | |
nssv13659748 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 11,898,758 | 11,898,758 | + | |
nssv13659747 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 11,898,760 | 11,898,760 | + | |
nssv13659749 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 28,534,812 | 28,534,812 | + | |
nssv13659747 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 28,534,813 | 28,534,813 | + | |
nssv13659748 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 101,035,116 | 101,035,116 | + | |
nssv13659749 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 101,035,116 | 101,035,116 | + | |
nssv13659745 | Submitted genomic | GRCh37 (hg19) | NC_000003.11 | Chr3 | 149,332,307 | 149,332,307 | + | |||
nssv13659750 | Submitted genomic | [NC_000003.11:g.14 9332307del];[NC_00 0003.11:g.15445397 5del] | GRCh37 (hg19) | NC_000003.11 | Chr3 | 149,332,307 | 149,332,307 | |||
nssv13659750 | Submitted genomic | [NC_000003.11:g.14 9332307del];[NC_00 0003.11:g.15445397 5del] | GRCh37 (hg19) | NC_000003.11 | Chr3 | 154,453,975 | 154,453,975 | |||
nssv13659746 | Submitted genomic | GRCh37 (hg19) | NC_000003.11 | Chr3 | 154,453,976 | 154,453,976 | - | |||
nssv13659746 | Submitted genomic | GRCh37 (hg19) | NC_000007.13 | Chr7 | 12,374,295 | 12,374,295 | + | |||
nssv13659745 | Submitted genomic | GRCh37 (hg19) | NC_000007.13 | Chr7 | 12,374,296 | 12,374,296 | - | |||
nssv13659748 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 11,940,757 | 11,940,757 | + | |||
nssv13659747 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 11,940,759 | 11,940,759 | + | |||
nssv13659749 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 28,823,741 | 28,823,741 | + | |||
nssv13659747 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 28,823,742 | 28,823,742 | + | |||
nssv13659748 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 102,794,873 | 102,794,873 | + | |||
nssv13659749 | Submitted genomic | GRCh37 (hg19) | NC_000010.10 | Chr10 | 102,794,873 | 102,794,873 | + |
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 |
---|---|---|---|---|---|---|---|
nssv13659745 | DGAP096 | interchromosomal translocation | SCV000320760 | Male | 6 | ||
nssv13659750 | DGAP096 | GRCh37: [NC_000003.11:g.149332307del];[NC_000003.11:g.154453975del] | copy number loss | SCV000320760 | Male | 6 | |
nssv13659746 | DGAP096 | interchromosomal translocation | SCV000320760 | Male | 6 | ||
nssv13659748 | DGAP096 | intrachromosomal translocation | SCV000320760 | Male | 6 | ||
nssv13659747 | DGAP096 | intrachromosomal translocation | SCV000320760 | Male | 6 | ||
nssv13659749 | DGAP096 | intrachromosomal translocation | SCV000320760 | Male | 6 |