nsv2781809
- 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: 94 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 94 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 107 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 94 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 94 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 107 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 18 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781809 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 20,558,564 | 20,558,564 | - |
nsv2781809 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 20,558,570 | 20,558,570 | + |
nsv2781809 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 224,530,224 | 224,530,224 | + |
nsv2781809 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 224,530,225 | 224,530,225 | + |
nsv2781809 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 224,916,514 | 224,916,514 | + |
nsv2781809 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 224,920,190 | 224,920,190 | - |
nsv2781809 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 20,885,057 | 20,885,057 | - | ||
nsv2781809 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 20,885,063 | 20,885,063 | + | ||
nsv2781809 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 225,394,941 | 225,394,941 | + | ||
nsv2781809 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 225,394,942 | 225,394,942 | + | ||
nsv2781809 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 225,781,231 | 225,781,231 | + | ||
nsv2781809 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 225,784,907 | 225,784,907 | - |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13660087 | interchromosomal translocation | DGAP219 | Sequencing | Split read and paired-end mapping, Split read mapping | SCV000320834 | nssv13660085, nssv13660086 |
nssv13660086 | interchromosomal translocation | DGAP219 | Sequencing | Split read and paired-end mapping, Split read mapping | SCV000320834 | nssv13660085, nssv13660087 |
nssv13660085 | intrachromosomal translocation | DGAP219 | Sequencing | Split read and paired-end mapping, Split read mapping | SCV000320834 | nssv13660086, nssv13660087 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv13660087 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 20,558,564 | 20,558,564 | - |
nssv13660086 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 20,558,570 | 20,558,570 | + |
nssv13660087 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 224,530,224 | 224,530,224 | + |
nssv13660085 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 224,530,225 | 224,530,225 | + |
nssv13660086 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 224,916,514 | 224,916,514 | + |
nssv13660085 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 224,920,190 | 224,920,190 | - |
nssv13660087 | Submitted genomic | GRCh37 (hg19) | NC_000001.10 | Chr1 | 20,885,057 | 20,885,057 | - | ||
nssv13660086 | Submitted genomic | GRCh37 (hg19) | NC_000001.10 | Chr1 | 20,885,063 | 20,885,063 | + | ||
nssv13660087 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 225,394,941 | 225,394,941 | + | ||
nssv13660085 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 225,394,942 | 225,394,942 | + | ||
nssv13660086 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 225,781,231 | 225,781,231 | + | ||
nssv13660085 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 225,784,907 | 225,784,907 | - |
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 |
---|---|---|---|---|---|---|
nssv13660087 | DGAP219 | interchromosomal translocation | SCV000320834 | Male | nssv13660085, nssv13660086 | |
nssv13660086 | DGAP219 | interchromosomal translocation | SCV000320834 | Male | nssv13660085, nssv13660087 | |
nssv13660085 | DGAP219 | intrachromosomal translocation | SCV000320834 | Male | nssv13660086, nssv13660087 |