nsv2781823
- 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: 216 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 209 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 176 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 176 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 176 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 176 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 216 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 209 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 176 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 176 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 176 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 176 SVs from 31 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781823 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 148,258,393 | 148,258,393 | + |
nsv2781823 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 148,259,189 | 148,259,189 | + |
nsv2781823 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 120,150,269 | 120,150,269 | + |
nsv2781823 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 120,150,308 | 120,150,308 | - |
nsv2781823 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 120,150,477 | 120,150,477 | - |
nsv2781823 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 120,150,481 | 120,150,481 | + |
nsv2781823 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 149,015,962 | 149,015,962 | + | ||
nsv2781823 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 149,016,758 | 149,016,758 | + | ||
nsv2781823 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 119,485,964 | 119,485,964 | + | ||
nsv2781823 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 119,486,003 | 119,486,003 | - | ||
nsv2781823 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 119,486,172 | 119,486,172 | - | ||
nsv2781823 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 119,486,176 | 119,486,176 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13660110 | interchromosomal translocation | DGAP235 | Sequencing | Split read and paired-end mapping | SCV000320843 | nssv13660111, nssv13660112 |
nssv13660112 | interchromosomal translocation | DGAP235 | Sequencing | Split read and paired-end mapping | SCV000320843 | nssv13660110, nssv13660111 |
nssv13660111 | intrachromosomal translocation | DGAP235 | Sequencing | Split read and paired-end mapping | SCV000320843 | nssv13660110, nssv13660112 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
---|---|---|---|---|---|---|---|---|---|
nssv13660110 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 148,258,393 | 148,258,393 | + |
nssv13660112 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 148,259,189 | 148,259,189 | + |
nssv13660112 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,150,269 | 120,150,269 | + |
nssv13660111 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,150,308 | 120,150,308 | - |
nssv13660110 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,150,477 | 120,150,477 | - |
nssv13660111 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 120,150,481 | 120,150,481 | + |
nssv13660110 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 149,015,962 | 149,015,962 | + | ||
nssv13660112 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 149,016,758 | 149,016,758 | + | ||
nssv13660112 | Submitted genomic | GRCh37 (hg19) | NC_000005.9 | Chr5 | 119,485,964 | 119,485,964 | + | ||
nssv13660111 | Submitted genomic | GRCh37 (hg19) | NC_000005.9 | Chr5 | 119,486,003 | 119,486,003 | - | ||
nssv13660110 | Submitted genomic | GRCh37 (hg19) | NC_000005.9 | Chr5 | 119,486,172 | 119,486,172 | - | ||
nssv13660111 | Submitted genomic | GRCh37 (hg19) | NC_000005.9 | Chr5 | 119,486,176 | 119,486,176 | + |
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 |
---|---|---|---|---|---|---|
nssv13660110 | DGAP235 | interchromosomal translocation | SCV000320843 | Male | nssv13660111, nssv13660112 | |
nssv13660112 | DGAP235 | interchromosomal translocation | SCV000320843 | Male | nssv13660110, nssv13660111 | |
nssv13660111 | DGAP235 | intrachromosomal translocation | SCV000320843 | Male | nssv13660110, nssv13660112 |