nsv2782001
- Organism: Homo sapiens
- Study:nstd133 (Redin et al. 2016)
- Variant Type:complex chromosomal rearrangement
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:5
- 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: 1066 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 1065 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 131 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 131 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 1068 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 1067 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 131 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 131 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv2782001 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 357,477 | 357,477 | - |
| nsv2782001 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 357,742 | 357,742 | + |
| nsv2782001 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 30,800,650 | 30,800,650 | + |
| nsv2782001 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 30,800,650 | 30,800,650 | + |
| nsv2782001 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 39,044,674 | 39,044,674 | + |
| nsv2782001 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 39,044,674 | 39,044,674 | + |
| nsv2782001 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 69,239,052 | 69,239,052 | + |
| nsv2782001 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 69,239,489 | 69,239,489 | - |
| nsv2782001 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 75,837,526 | 75,837,526 | - |
| nsv2782001 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 75,837,528 | 75,837,528 | - |
| nsv2782001 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 357,477 | 357,477 | - | ||
| nsv2782001 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 357,742 | 357,742 | + | ||
| nsv2782001 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 31,269,856 | 31,269,856 | + | ||
| nsv2782001 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 31,269,856 | 31,269,856 | + | ||
| nsv2782001 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 39,513,878 | 39,513,878 | + | ||
| nsv2782001 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 39,513,878 | 39,513,878 | + | ||
| nsv2782001 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 69,272,955 | 69,272,955 | + | ||
| nsv2782001 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 69,273,392 | 69,273,392 | - | ||
| nsv2782001 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 75,871,424 | 75,871,424 | - | ||
| nsv2782001 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 75,871,426 | 75,871,426 | - |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv13659710 | interchromosomal translocation | DGAP002 | Sequencing | Split read and paired-end mapping | SCV000320746 | 5 |
| nssv13659706 | interchromosomal translocation | DGAP002 | Sequencing | Split read and paired-end mapping | SCV000320746 | 5 |
| nssv13659707 | interchromosomal translocation | DGAP002 | Sequencing | Split read and paired-end mapping | SCV000320746 | 5 |
| nssv13659711 | copy number loss | DGAP002 | Sequencing | Split read and paired-end mapping | SCV000320746 | 5 |
| nssv13659709 | interchromosomal translocation | DGAP002 | Sequencing | Split read and paired-end mapping | SCV000320746 | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv13659710 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 357,477 | 357,477 | - | |
| nssv13659706 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 357,742 | 357,742 | + | |
| nssv13659707 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 30,800,650 | 30,800,650 | + | |
| nssv13659711 | Remapped | Perfect | NC_000014.9:g.3080 0650delNC_000014.9 :g.39044674del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 30,800,650 | 30,800,650 | |
| nssv13659709 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 39,044,674 | 39,044,674 | + | |
| nssv13659711 | Remapped | Perfect | NC_000014.9:g.3080 0650delNC_000014.9 :g.39044674del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 39,044,674 | 39,044,674 | |
| nssv13659710 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 69,239,052 | 69,239,052 | + | |
| nssv13659709 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 69,239,489 | 69,239,489 | - | |
| nssv13659706 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 75,837,526 | 75,837,526 | - | |
| nssv13659707 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 75,837,528 | 75,837,528 | - | |
| nssv13659710 | Submitted genomic | GRCh37 (hg19) | NC_000009.11 | Chr9 | 357,477 | 357,477 | - | |||
| nssv13659706 | Submitted genomic | GRCh37 (hg19) | NC_000009.11 | Chr9 | 357,742 | 357,742 | + | |||
| nssv13659707 | Submitted genomic | GRCh37 (hg19) | NC_000014.8 | Chr14 | 31,269,856 | 31,269,856 | + | |||
| nssv13659711 | Submitted genomic | [NC_000014.8:g.312 69856del];[NC_0000 14.8:g.39513878del ] | GRCh37 (hg19) | NC_000014.8 | Chr14 | 31,269,856 | 31,269,856 | |||
| nssv13659709 | Submitted genomic | GRCh37 (hg19) | NC_000014.8 | Chr14 | 39,513,878 | 39,513,878 | + | |||
| nssv13659711 | Submitted genomic | [NC_000014.8:g.312 69856del];[NC_0000 14.8:g.39513878del ] | GRCh37 (hg19) | NC_000014.8 | Chr14 | 39,513,878 | 39,513,878 | |||
| nssv13659710 | Submitted genomic | GRCh37 (hg19) | NC_000016.9 | Chr16 | 69,272,955 | 69,272,955 | + | |||
| nssv13659709 | Submitted genomic | GRCh37 (hg19) | NC_000016.9 | Chr16 | 69,273,392 | 69,273,392 | - | |||
| nssv13659706 | Submitted genomic | GRCh37 (hg19) | NC_000016.9 | Chr16 | 75,871,424 | 75,871,424 | - | |||
| nssv13659707 | Submitted genomic | GRCh37 (hg19) | NC_000016.9 | Chr16 | 75,871,426 | 75,871,426 | - |
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 |
|---|---|---|---|---|---|---|---|
| nssv13659710 | DGAP002 | interchromosomal translocation | SCV000320746 | Male | 5 | ||
| nssv13659706 | DGAP002 | interchromosomal translocation | SCV000320746 | Male | 5 | ||
| nssv13659707 | DGAP002 | interchromosomal translocation | SCV000320746 | Male | 5 | ||
| nssv13659711 | DGAP002 | GRCh37: [NC_000014.8:g.31269856del];[NC_000014.8:g.39513878del] | copy number loss | SCV000320746 | Male | 5 | |
| nssv13659709 | DGAP002 | interchromosomal translocation | SCV000320746 | Male | 5 |