nsv6310202
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:154,131
- Description:
See descriptions for individual calls in download files - Publication(s):Clinton et al. 2009, No authors et al. 2021, No authors et al. 2021, Savage et al. 2009
- ClinVar: RCV001950640.4
- ClinVar: RCV003107905.2
- ClinVar: VCV001441447.8
- GeneReviews: NBK22301
- GeneReviews: NBK7047
- HP: 0004810
- MONDO: 0015253
- MONDO: 0015780
- MeSH: D029503
- MedGen: C0265965
- MedGen: C1260899
- OMIM: 105650
- OMIM: PS105650
- OMIM: PS127550
- Orphanet: 124
- PubMed: 20301769
- PubMed: 20301779
- PubMed: 26389258
- PubMed: 26389333
- 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: 655 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 655 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6310202 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 8,228,180 | 8,382,310 |
| nsv6310202 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 8,131,498 | 8,285,628 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17971031 | duplication | Multiple | Multiple | Dyskeratosis Congenita; Dyskeratosis congenita; Dyskeratosis congenita; Server error < EMBL-EBI | Uncertain significance | ClinVar | RCV001950640.4, VCV001441447.8 |
| nssv18788403 | duplication | Multiple | Multiple | Anemia, Diamond-Blackfan; Blackfan-Diamond anemia; Congenital hypoplastic anemia; DIAMOND-BLACKFAN ANEMIA 1; DBA1; Diamond-Blackfan Anemia; Diamond-Blackfan anemia; Diamond-Blackfan anemia | Uncertain significance | ClinVar | RCV003107905.2, VCV001441447.8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17971031 | Remapped | Perfect | NC_000017.11:g.(?_ 8228180)_(8382310_ ?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 8,228,180 | 8,382,310 |
| nssv18788403 | Remapped | Perfect | NC_000017.11:g.(?_ 8228180)_(8382310_ ?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 8,228,180 | 8,382,310 |
| nssv17971031 | Submitted genomic | NC_000017.10:g.(?_ 8131498)_(8285628_ ?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 8,131,498 | 8,285,628 | ||
| nssv18788403 | Submitted genomic | NC_000017.10:g.(?_ 8131498)_(8285628_ ?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 8,131,498 | 8,285,628 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17971031 | GRCh37: NC_000017.10:g.(?_8131498)_(8285628_?)dup | duplication | germline | Dyskeratosis Congenita; Dyskeratosis congenita; Dyskeratosis congenita; Server error < EMBL-EBI | Uncertain significance | ClinVar | RCV001950640.4, VCV001441447.8 |
| nssv18788403 | GRCh37: NC_000017.10:g.(?_8131498)_(8285628_?)dup | duplication | germline | Anemia, Diamond-Blackfan; Blackfan-Diamond anemia; Congenital hypoplastic anemia; DIAMOND-BLACKFAN ANEMIA 1; DBA1; Diamond-Blackfan Anemia; Diamond-Blackfan anemia; Diamond-Blackfan anemia | Uncertain significance | ClinVar | RCV003107905.2, VCV001441447.8 |