nsv2781947
- 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: 303 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 303 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 303 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 303 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 23 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv2781947 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 130,981,976 | 130,981,976 | - |
nsv2781947 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 130,981,984 | 130,981,984 | + |
nsv2781947 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 33,721,751 | 33,721,751 | + |
nsv2781947 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 33,721,756 | 33,721,756 | - |
nsv2781947 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 130,851,871 | 130,851,871 | - | ||
nsv2781947 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 130,851,879 | 130,851,879 | + | ||
nsv2781947 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 33,743,297 | 33,743,297 | + | ||
nsv2781947 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 33,743,302 | 33,743,302 | - |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv13660406 | inversion | ROC50 | Sequencing | Split read and paired-end mapping | SCV000320943 | nssv13660407 |
nssv13660407 | inversion | ROC50 | Sequencing | Split read and paired-end mapping | SCV000320943 | nssv13660406 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv13660406 | Remapped | Perfect | NC_000011.10:g.337 21751inv698NC_0000 11.10:g.130981976i nv698 | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 33,721,751 | 33,721,751 |
nssv13660407 | Remapped | Perfect | NC_000011.10:g.337 21756inv553NC_0000 11.10:g.130981984i nv553 | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 33,721,756 | 33,721,756 |
nssv13660406 | Remapped | Perfect | NC_000011.10:g.337 21751inv698NC_0000 11.10:g.130981976i nv698 | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 130,981,976 | 130,981,976 |
nssv13660407 | Remapped | Perfect | NC_000011.10:g.337 21756inv553NC_0000 11.10:g.130981984i nv553 | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 130,981,984 | 130,981,984 |
nssv13660406 | Submitted genomic | [NC_000011.9:g.337 43297inv698];[NC_0 00011.9:g.13085187 1inv698] | GRCh37 (hg19) | NC_000011.9 | Chr11 | 33,743,297 | 33,743,297 | ||
nssv13660407 | Submitted genomic | [NC_000011.9:g.337 43302inv553];[NC_0 00011.9:g.13085187 9inv553] | GRCh37 (hg19) | NC_000011.9 | Chr11 | 33,743,302 | 33,743,302 | ||
nssv13660406 | Submitted genomic | [NC_000011.9:g.337 43297inv698];[NC_0 00011.9:g.13085187 1inv698] | GRCh37 (hg19) | NC_000011.9 | Chr11 | 130,851,871 | 130,851,871 | ||
nssv13660407 | Submitted genomic | [NC_000011.9:g.337 43302inv553];[NC_0 00011.9:g.13085187 9inv553] | GRCh37 (hg19) | NC_000011.9 | Chr11 | 130,851,879 | 130,851,879 |
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 |
---|---|---|---|---|---|---|---|
nssv13660406 | ROC50 | GRCh37: [NC_000011.9:g.33743297inv698];[NC_000011.9:g.130851871inv698] | inversion | SCV000320943 | Male | nssv13660407 | |
nssv13660407 | ROC50 | GRCh37: [NC_000011.9:g.33743302inv553];[NC_000011.9:g.130851879inv553] | inversion | SCV000320943 | Male | nssv13660406 |