nsv2781924
- 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: 128 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 128 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 122 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 122 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 10 SVs from 10 studies. See in: genome view
Overlapping variant regions from other studies: 10 SVs from 10 studies. See in: genome view
Overlapping variant regions from other studies: 128 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 128 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 122 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 122 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv2781924 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 70,450,228 | 70,450,228 | + |
| nsv2781924 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 70,450,234 | 70,450,234 | - |
| nsv2781924 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 78,075,988 | 78,075,988 | - |
| nsv2781924 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 78,075,990 | 78,075,990 | + |
| nsv2781924 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315954.1 | Chr17|NW_0 03315954.1 | 150,004 | 150,004 | + |
| nsv2781924 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315954.1 | Chr17|NW_0 03315954.1 | 150,010 | 150,010 | - |
| nsv2781924 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 68,446,369 | 68,446,369 | + | ||
| nsv2781924 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 68,446,375 | 68,446,375 | - | ||
| nsv2781924 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 76,072,069 | 76,072,069 | - | ||
| nsv2781924 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 76,072,071 | 76,072,071 | + |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv13660334 | inversion | ROC20 | Sequencing | Split read and paired-end mapping | SCV000320920 | nssv13660335 |
| nssv13660335 | inversion | ROC20 | Sequencing | Split read and paired-end mapping | SCV000320920 | nssv13660334 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13660334 | Remapped | Perfect | NW_003315954.1:g.1 50004inv697 | GRCh38.p12 | Second Pass | NW_003315954.1 | Chr17|NW_0 03315954.1 | 150,004 | 150,004 |
| nssv13660335 | Remapped | Perfect | NW_003315954.1:g.1 50010inv381 | GRCh38.p12 | Second Pass | NW_003315954.1 | Chr17|NW_0 03315954.1 | 150,010 | 150,010 |
| nssv13660334 | Remapped | Perfect | NC_000017.11:g.704 50228inv697NC_0000 17.11:g.78075988in v697 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 70,450,228 | 70,450,228 |
| nssv13660335 | Remapped | Perfect | NC_000017.11:g.704 50234inv381NC_0000 17.11:g.78075990in v381 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 70,450,234 | 70,450,234 |
| nssv13660334 | Remapped | Perfect | NC_000017.11:g.704 50228inv697NC_0000 17.11:g.78075988in v697 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 78,075,988 | 78,075,988 |
| nssv13660335 | Remapped | Perfect | NC_000017.11:g.704 50234inv381NC_0000 17.11:g.78075990in v381 | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 78,075,990 | 78,075,990 |
| nssv13660334 | Submitted genomic | [NC_000017.10:g.68 446369inv697];[NC_ 000017.10:g.760720 69inv697] | GRCh37 (hg19) | NC_000017.10 | Chr17 | 68,446,369 | 68,446,369 | ||
| nssv13660335 | Submitted genomic | [NC_000017.10:g.68 446375inv381];[NC_ 000017.10:g.760720 71inv381] | GRCh37 (hg19) | NC_000017.10 | Chr17 | 68,446,375 | 68,446,375 | ||
| nssv13660334 | Submitted genomic | [NC_000017.10:g.68 446369inv697];[NC_ 000017.10:g.760720 69inv697] | GRCh37 (hg19) | NC_000017.10 | Chr17 | 76,072,069 | 76,072,069 | ||
| nssv13660335 | Submitted genomic | [NC_000017.10:g.68 446375inv381];[NC_ 000017.10:g.760720 71inv381] | GRCh37 (hg19) | NC_000017.10 | Chr17 | 76,072,071 | 76,072,071 |
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 |
|---|---|---|---|---|---|---|---|
| nssv13660334 | ROC20 | GRCh37: [NC_000017.10:g.68446369inv697];[NC_000017.10:g.76072069inv697] | inversion | SCV000320920 | Male | nssv13660335 | |
| nssv13660335 | ROC20 | GRCh37: [NC_000017.10:g.68446375inv381];[NC_000017.10:g.76072071inv381] | inversion | SCV000320920 | Male | nssv13660334 |