nsv2781903
- Organism: Homo sapiens
- Study:nstd133 (Redin et al. 2016)
- Variant Type:complex chromosomal rearrangement
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- 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: 114 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 114 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 114 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 114 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 20 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781903 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 111,687,317 | 111,687,317 | + |
nsv2781903 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 111,687,318 | 111,687,318 | - |
nsv2781903 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 189,951,390 | 189,951,390 | - |
nsv2781903 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 189,951,400 | 189,951,400 | + |
nsv2781903 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 111,406,164 | 111,406,164 | + | ||
nsv2781903 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 111,406,165 | 111,406,165 | - | ||
nsv2781903 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 189,669,179 | 189,669,179 | - | ||
nsv2781903 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 189,669,189 | 189,669,189 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13660291 | inversion | MGH4 | Sequencing | Split read and paired-end mapping | SCV000320899 | nssv13660292 |
nssv13660292 | inversion | MGH4 | Sequencing | Split read and paired-end mapping | SCV000320899 | nssv13660291 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv13660291 | Remapped | Perfect | NC_000003.12:g.111 687317inv740NC_000 003.12:g.189951390 inv740 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 111,687,317 | 111,687,317 |
nssv13660292 | Remapped | Perfect | NC_000003.12:g.111 687318inv538NC_000 003.12:g.189951400 inv538 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 111,687,318 | 111,687,318 |
nssv13660291 | Remapped | Perfect | NC_000003.12:g.111 687317inv740NC_000 003.12:g.189951390 inv740 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 189,951,390 | 189,951,390 |
nssv13660292 | Remapped | Perfect | NC_000003.12:g.111 687318inv538NC_000 003.12:g.189951400 inv538 | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 189,951,400 | 189,951,400 |
nssv13660291 | Submitted genomic | [NC_000003.11:g.11 1406164inv740];[NC _000003.11:g.18966 9179inv740] | GRCh37 (hg19) | NC_000003.11 | Chr3 | 111,406,164 | 111,406,164 | ||
nssv13660292 | Submitted genomic | [NC_000003.11:g.11 1406165inv538];[NC _000003.11:g.18966 9189inv538] | GRCh37 (hg19) | NC_000003.11 | Chr3 | 111,406,165 | 111,406,165 | ||
nssv13660291 | Submitted genomic | [NC_000003.11:g.11 1406164inv740];[NC _000003.11:g.18966 9179inv740] | GRCh37 (hg19) | NC_000003.11 | Chr3 | 189,669,179 | 189,669,179 | ||
nssv13660292 | Submitted genomic | [NC_000003.11:g.11 1406165inv538];[NC _000003.11:g.18966 9189inv538] | GRCh37 (hg19) | NC_000003.11 | Chr3 | 189,669,189 | 189,669,189 |
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 |
---|---|---|---|---|---|---|---|
nssv13660291 | MGH4 | GRCh37: [NC_000003.11:g.111406164inv740];[NC_000003.11:g.189669179inv740] | inversion | SCV000320899 | Female | nssv13660292 | |
nssv13660292 | MGH4 | GRCh37: [NC_000003.11:g.111406165inv538];[NC_000003.11:g.189669189inv538] | inversion | SCV000320899 | Female | nssv13660291 |