nsv2781948
- 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: 115 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 190 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 190 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 40 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 40 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 190 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 190 SVs from 39 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv2781948 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 51,979,994 | 51,979,994 | + |
| nsv2781948 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 51,980,396 | 51,980,396 | - |
| nsv2781948 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 70,158,585 | 70,158,585 | - |
| nsv2781948 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 70,159,103 | 70,159,103 | + |
| nsv2781948 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_013171801.1 | Chr4|NW_01 3171801.1 | 203,171 | 203,171 | - |
| nsv2781948 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_013171801.1 | Chr4|NW_01 3171801.1 | 203,689 | 203,689 | + |
| nsv2781948 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 52,846,160 | 52,846,160 | + | ||
| nsv2781948 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 52,846,562 | 52,846,562 | - | ||
| nsv2781948 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 71,024,302 | 71,024,302 | - | ||
| nsv2781948 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 71,024,820 | 71,024,820 | + |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv13660408 | inversion | ROC53 | Sequencing | Split read and paired-end mapping | SCV000320944 | nssv13660409 |
| nssv13660409 | inversion | ROC53 | Sequencing | Split read and paired-end mapping | SCV000320944 | nssv13660408 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13660408 | Remapped | Perfect | NW_013171801.1:g.2 03171inv541 | GRCh38.p12 | Second Pass | NW_013171801.1 | Chr4|NW_01 3171801.1 | 203,171 | 203,171 |
| nssv13660409 | Remapped | Perfect | NW_013171801.1:g.2 03689inv | GRCh38.p12 | Second Pass | NW_013171801.1 | Chr4|NW_01 3171801.1 | 203,689 | 203,689 |
| nssv13660408 | Remapped | Perfect | NC_000004.12:g.519 79994inv541NC_0000 04.12:g.70158585in v541 | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 51,979,994 | 51,979,994 |
| nssv13660409 | Remapped | Perfect | NC_000004.12:g.519 80396invNC_000004. 12:g.70159103inv | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 51,980,396 | 51,980,396 |
| nssv13660408 | Remapped | Perfect | NC_000004.12:g.519 79994inv541NC_0000 04.12:g.70158585in v541 | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 70,158,585 | 70,158,585 |
| nssv13660409 | Remapped | Perfect | NC_000004.12:g.519 80396invNC_000004. 12:g.70159103inv | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 70,159,103 | 70,159,103 |
| nssv13660408 | Submitted genomic | [NC_000004.11:g.52 846160inv541];[NC_ 000004.11:g.710243 02inv541] | GRCh37 (hg19) | NC_000004.11 | Chr4 | 52,846,160 | 52,846,160 | ||
| nssv13660409 | Submitted genomic | [NC_000004.11:g.52 846562inv];[NC_000 004.11:g.71024820i nv] | GRCh37 (hg19) | NC_000004.11 | Chr4 | 52,846,562 | 52,846,562 | ||
| nssv13660408 | Submitted genomic | [NC_000004.11:g.52 846160inv541];[NC_ 000004.11:g.710243 02inv541] | GRCh37 (hg19) | NC_000004.11 | Chr4 | 71,024,302 | 71,024,302 | ||
| nssv13660409 | Submitted genomic | [NC_000004.11:g.52 846562inv];[NC_000 004.11:g.71024820i nv] | GRCh37 (hg19) | NC_000004.11 | Chr4 | 71,024,820 | 71,024,820 |
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 |
|---|---|---|---|---|---|---|---|
| nssv13660408 | ROC53 | GRCh37: [NC_000004.11:g.52846160inv541];[NC_000004.11:g.71024302inv541] | inversion | SCV000320944 | Male | nssv13660409 | |
| nssv13660409 | ROC53 | GRCh37: [NC_000004.11:g.52846562inv];[NC_000004.11:g.71024820inv] | inversion | SCV000320944 | Male | nssv13660408 |