nsv2781940
- 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: 438 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 438 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 401 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 130 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 429 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 429 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 259 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 156 SVs from 35 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781940 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 201,090 | 201,090 | + |
nsv2781940 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 201,106 | 201,106 | - |
nsv2781940 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 63,838,723 | 63,838,723 | - |
nsv2781940 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 68,221,094 | 68,221,094 | + |
nsv2781940 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 201,090 | 201,090 | + | ||
nsv2781940 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 201,106 | 201,106 | - | ||
nsv2781940 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 68,434,457 | 68,434,457 | - | ||
nsv2781940 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 70,836,010 | 70,836,010 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13660391 | inversion | ROC38 | Sequencing | Split read and paired-end mapping | SCV000320936 | nssv13660392 |
nssv13660392 | inversion | ROC38 | Sequencing | Split read and paired-end mapping | SCV000320936 | nssv13660391 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv13660391 | Remapped | Perfect | NC_000009.12:g.201 090invNC_000009.12 :g.63838723inv | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 201,090 | 201,090 |
nssv13660392 | Remapped | Perfect | NC_000009.12:g.201 106invNC_000009.12 :g.68221094inv | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 201,106 | 201,106 |
nssv13660391 | Remapped | Perfect | NC_000009.12:g.201 090invNC_000009.12 :g.63838723inv | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 63,838,723 | 63,838,723 |
nssv13660392 | Remapped | Perfect | NC_000009.12:g.201 106invNC_000009.12 :g.68221094inv | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 68,221,094 | 68,221,094 |
nssv13660391 | Submitted genomic | [NC_000009.11:g.20 1090inv];[NC_00000 9.11:g.68434457inv ] | GRCh37 (hg19) | NC_000009.11 | Chr9 | 201,090 | 201,090 | ||
nssv13660392 | Submitted genomic | [NC_000009.11:g.20 1106inv];[NC_00000 9.11:g.70836010inv ] | GRCh37 (hg19) | NC_000009.11 | Chr9 | 201,106 | 201,106 | ||
nssv13660391 | Submitted genomic | [NC_000009.11:g.20 1090inv];[NC_00000 9.11:g.68434457inv ] | GRCh37 (hg19) | NC_000009.11 | Chr9 | 68,434,457 | 68,434,457 | ||
nssv13660392 | Submitted genomic | [NC_000009.11:g.20 1106inv];[NC_00000 9.11:g.70836010inv ] | GRCh37 (hg19) | NC_000009.11 | Chr9 | 70,836,010 | 70,836,010 |
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 |
---|---|---|---|---|---|---|---|
nssv13660391 | ROC38 | GRCh37: [NC_000009.11:g.201090inv];[NC_000009.11:g.68434457inv] | inversion | SCV000320936 | Male | nssv13660392 | |
nssv13660392 | ROC38 | GRCh37: [NC_000009.11:g.201106inv];[NC_000009.11:g.70836010inv] | inversion | SCV000320936 | Male | nssv13660391 |