nsv5564405
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:195,703
- Description:
See descriptions for individual calls in download files - Publication(s):Toriello et al. 2009
- ClinVar: RCV001374077.2
- ClinVar: RCV001975148.3
- ClinVar: RCV003107930.2
- ClinVar: RCV003120587.2
- ClinVar: VCV001064148.5
- ClinVar: VCV001459111.4
- GeneReviews: NBK23758
- MONDO: 0010121
- MeSH: C536940
- MedGen: C0175703
- MedGen: CN517202
- OMIM: 274000
- Orphanet: 3320
- PubMed: 20301781
- Overlapping Genes
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: 922 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 858 SVs from 85 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5564405 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 145,824,529 | 146,020,231 |
| nsv5564405 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 145,414,782 | 145,610,584 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17059210 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001374077.2, VCV001064148.5 |
| nssv17972419 | deletion | Multiple | Multiple | Absent radii and thrombocytopenia; Radial aplasia-thrombocytopenia syndrome; THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR; Thrombocytopenia Absent Radius Syndrome; Thrombocytopenia-absent radius syndrome | Pathogenic | ClinVar | RCV001975148.3, VCV001459111.4 |
| nssv18787069 | duplication | Multiple | Multiple | Absent radii and thrombocytopenia; Radial aplasia-thrombocytopenia syndrome; THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR; Thrombocytopenia Absent Radius Syndrome; Thrombocytopenia-absent radius syndrome | Uncertain significance | ClinVar | RCV003120587.2, VCV001064148.5 |
| nssv18788408 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV003107930.2, VCV001459111.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17059210 | Remapped | Good | NC_000001.11:g.(?_ 145824529)_(146020 231_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,824,529 | 146,020,231 |
| nssv17972419 | Remapped | Good | NC_000001.11:g.(?_ 145824529)_(146020 231_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,824,529 | 146,020,231 |
| nssv18787069 | Remapped | Good | NC_000001.11:g.(?_ 145824529)_(146020 231_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,824,529 | 146,020,231 |
| nssv18788408 | Remapped | Good | NC_000001.11:g.(?_ 145824529)_(146020 231_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,824,529 | 146,020,231 |
| nssv17059210 | Submitted genomic | NC_000001.10:g.(?_ 145414782)_(145610 584_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 145,414,782 | 145,610,584 | ||
| nssv17972419 | Submitted genomic | NC_000001.10:g.(?_ 145414782)_(145610 584_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 145,414,782 | 145,610,584 | ||
| nssv18787069 | Submitted genomic | NC_000001.10:g.(?_ 145414782)_(145610 584_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 145,414,782 | 145,610,584 | ||
| nssv18788408 | Submitted genomic | NC_000001.10:g.(?_ 145414782)_(145610 584_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 145,414,782 | 145,610,584 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17059210 | GRCh37: NC_000001.10:g.(?_145414782)_(145610584_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV001374077.2, VCV001064148.5 |
| nssv17972419 | GRCh37: NC_000001.10:g.(?_145414782)_(145610584_?)del | deletion | germline | Absent radii and thrombocytopenia; Radial aplasia-thrombocytopenia syndrome; THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR; Thrombocytopenia Absent Radius Syndrome; Thrombocytopenia-absent radius syndrome | Pathogenic | ClinVar | RCV001975148.3, VCV001459111.4 |
| nssv18787069 | GRCh37: NC_000001.10:g.(?_145414782)_(145610584_?)dup | duplication | germline | Absent radii and thrombocytopenia; Radial aplasia-thrombocytopenia syndrome; THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR; Thrombocytopenia Absent Radius Syndrome; Thrombocytopenia-absent radius syndrome | Uncertain significance | ClinVar | RCV003120587.2, VCV001064148.5 |
| nssv18788408 | GRCh37: NC_000001.10:g.(?_145414782)_(145610584_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV003107930.2, VCV001459111.4 |