nsv2781936
- 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: 122 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 122 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 122 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 122 SVs from 25 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781936 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 126,472,931 | 126,472,931 | - |
nsv2781936 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 126,473,098 | 126,473,098 | + |
nsv2781936 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 97,384,977 | 97,384,977 | + |
nsv2781936 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 97,384,984 | 97,384,984 | - |
nsv2781936 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 100,147,259 | 100,147,259 | + | ||
nsv2781936 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 100,147,266 | 100,147,266 | - | ||
nsv2781936 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 129,235,210 | 129,235,210 | - | ||
nsv2781936 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 129,235,377 | 129,235,377 | + |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13660381 | inversion | ROC34 | Sequencing | Split read and paired-end mapping | SCV000320932 | nssv13660382 |
nssv13660382 | inversion | ROC34 | Sequencing | Split read and paired-end mapping | SCV000320932 | nssv13660381 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv13660381 | Remapped | Perfect | NC_000009.12:g.973 84977inv480NC_0000 09.12:g.126472931i nv480 | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 97,384,977 | 97,384,977 |
nssv13660382 | Remapped | Perfect | NC_000009.12:g.973 84984inv388NC_0000 09.12:g.126473098i nv388 | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 97,384,984 | 97,384,984 |
nssv13660381 | Remapped | Perfect | NC_000009.12:g.973 84977inv480NC_0000 09.12:g.126472931i nv480 | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 126,472,931 | 126,472,931 |
nssv13660382 | Remapped | Perfect | NC_000009.12:g.973 84984inv388NC_0000 09.12:g.126473098i nv388 | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 126,473,098 | 126,473,098 |
nssv13660381 | Submitted genomic | [NC_000009.11:g.10 0147259inv480];[NC _000009.11:g.12923 5210inv480] | GRCh37 (hg19) | NC_000009.11 | Chr9 | 100,147,259 | 100,147,259 | ||
nssv13660382 | Submitted genomic | [NC_000009.11:g.10 0147266inv388];[NC _000009.11:g.12923 5377inv388] | GRCh37 (hg19) | NC_000009.11 | Chr9 | 100,147,266 | 100,147,266 | ||
nssv13660381 | Submitted genomic | [NC_000009.11:g.10 0147259inv480];[NC _000009.11:g.12923 5210inv480] | GRCh37 (hg19) | NC_000009.11 | Chr9 | 129,235,210 | 129,235,210 | ||
nssv13660382 | Submitted genomic | [NC_000009.11:g.10 0147266inv388];[NC _000009.11:g.12923 5377inv388] | GRCh37 (hg19) | NC_000009.11 | Chr9 | 129,235,377 | 129,235,377 |
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 |
---|---|---|---|---|---|---|---|
nssv13660381 | ROC34 | GRCh37: [NC_000009.11:g.100147259inv480];[NC_000009.11:g.129235210inv480] | inversion | SCV000320932 | Male | nssv13660382 | |
nssv13660382 | ROC34 | GRCh37: [NC_000009.11:g.100147266inv388];[NC_000009.11:g.129235377inv388] | inversion | SCV000320932 | Male | nssv13660381 |