nsv2781802
- 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: 139 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 165 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 165 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 139 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 165 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 165 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv2781802 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 170,970,733 | 170,970,733 | + |
| nsv2781802 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 170,970,733 | 170,970,733 | - |
| nsv2781802 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 32,085,365 | 32,085,365 | + |
| nsv2781802 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 32,085,642 | 32,085,642 | - |
| nsv2781802 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 171,827,243 | 171,827,243 | + | ||
| nsv2781802 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 171,827,243 | 171,827,243 | - | ||
| nsv2781802 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 32,310,434 | 32,310,434 | + | ||
| nsv2781802 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 32,310,711 | 32,310,711 | - |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv13660026 | inversion | DGAP193 | Sequencing | Split read mapping | SCV000320822 | nssv13660027 |
| nssv13660027 | inversion | DGAP193 | Sequencing | Split read mapping | SCV000320822 | nssv13660026 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13660026 | Remapped | Perfect | NC_000002.12:g.320 85365inv737NC_0000 02.12:g.170970733i nv737 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 32,085,365 | 32,085,365 |
| nssv13660027 | Remapped | Perfect | NC_000002.12:g.320 85642inv794NC_0000 02.12:g.170970733i nv794 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 32,085,642 | 32,085,642 |
| nssv13660026 | Remapped | Perfect | NC_000002.12:g.320 85365inv737NC_0000 02.12:g.170970733i nv737 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 170,970,733 | 170,970,733 |
| nssv13660027 | Remapped | Perfect | NC_000002.12:g.320 85642inv794NC_0000 02.12:g.170970733i nv794 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 170,970,733 | 170,970,733 |
| nssv13660026 | Submitted genomic | [NC_000002.11:g.32 310434inv737];[NC_ 000002.11:g.171827 243inv737] | GRCh37 (hg19) | NC_000002.11 | Chr2 | 32,310,434 | 32,310,434 | ||
| nssv13660027 | Submitted genomic | [NC_000002.11:g.32 310711inv794];[NC_ 000002.11:g.171827 243inv794] | GRCh37 (hg19) | NC_000002.11 | Chr2 | 32,310,711 | 32,310,711 | ||
| nssv13660026 | Submitted genomic | [NC_000002.11:g.32 310434inv737];[NC_ 000002.11:g.171827 243inv737] | GRCh37 (hg19) | NC_000002.11 | Chr2 | 171,827,243 | 171,827,243 | ||
| nssv13660027 | Submitted genomic | [NC_000002.11:g.32 310711inv794];[NC_ 000002.11:g.171827 243inv794] | GRCh37 (hg19) | NC_000002.11 | Chr2 | 171,827,243 | 171,827,243 |
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 |
|---|---|---|---|---|---|---|---|
| nssv13660026 | DGAP193 | GRCh37: [NC_000002.11:g.32310434inv737];[NC_000002.11:g.171827243inv737] | inversion | SCV000320822 | Female | nssv13660027 | |
| nssv13660027 | DGAP193 | GRCh37: [NC_000002.11:g.32310711inv794];[NC_000002.11:g.171827243inv794] | inversion | SCV000320822 | Female | nssv13660026 |